{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":1801,"total_is_capped":false,"direct_labels_cover":4,"predictions_cover":1801,"direct_label_status":"direct model label, unvalidated","prediction_status":"machine_predicted_unvalidated (Codex and Gemma teacher distillation)","score_status":"score_only:v0-immature-baseline (scores rank; they never assert a category)","snapshot":{"source":"OpenAlex, pinned release, all 482 partitions","release":"2026-06-24","frame_built":"2026-07-12","author_layer_release":"2026-06-26"},"query_hash":"ae9597aedda2","filters":{"topic":"Genomics and Rare Diseases"}},"results":[{"id":"W2256016639","doi":"10.1038/nature19057","title":"Analysis of protein-coding genetic variation in 60,706 humans","year":2016,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10311,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Ottawa","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Wellcome Trust; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institute on Aging; Medical Research Council; European Commission; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute for Health and Care Research; U.S. Public Health Service; British Heart Foundation","keywords":"Variation (astronomy); Genetic variation; Coding (social sciences); Evolutionary biology; Computational biology; Biology; Genetics; Statistics; Gene; Mathematics; Physics","authors":[{"name":"Monkol Lek","is_ca":false},{"name":"Konrad J. Karczewski","is_ca":false},{"name":"Eric Vallabh Minikel","is_ca":false},{"name":"Kaitlin E. Samocha","is_ca":false},{"name":"Eric Banks","is_ca":false},{"name":"Timothy R. Fennell","is_ca":false},{"name":"Anne O’Donnell‐Luria","is_ca":false},{"name":"James S. Ware","is_ca":false},{"name":"Andrew Hill","is_ca":false},{"name":"Beryl B. Cummings","is_ca":false},{"name":"Taru Tukiainen","is_ca":false},{"name":"Daniel P. Birnbaum","is_ca":false},{"name":"Jack A. Kosmicki","is_ca":false},{"name":"Laramie E. Duncan","is_ca":false},{"name":"Karol Estrada","is_ca":false},{"name":"Fengmei Zhao","is_ca":false},{"name":"James Zou","is_ca":false},{"name":"Emma Pierce‐Hoffman","is_ca":false},{"name":"Joanne Berghout","is_ca":false},{"name":"D.N. Cooper","is_ca":false},{"name":"Nicole Deflaux","is_ca":false},{"name":"Mark A. DePristo","is_ca":false},{"name":"Ron Do","is_ca":false},{"name":"Jason Flannick","is_ca":false},{"name":"Menachem Fromer","is_ca":false},{"name":"Laura D. Gauthier","is_ca":false},{"name":"Jackie Goldstein","is_ca":false},{"name":"Namrata Gupta","is_ca":false},{"name":"Daniel P. Howrigan","is_ca":false},{"name":"Adam Kieżun","is_ca":false},{"name":"Mitja Kurki","is_ca":false},{"name":"Ami Levy Moonshine","is_ca":false},{"name":"Pradeep Natarajan","is_ca":false},{"name":"Lorena Orozco","is_ca":false},{"name":"Gina M. Peloso","is_ca":false},{"name":"Ryan Poplin","is_ca":false},{"name":"Manuel A. Rivas","is_ca":false},{"name":"Valentín Ruano-Rubio","is_ca":false},{"name":"Samuel A. Rose","is_ca":false},{"name":"Douglas M. Ruderfer","is_ca":false},{"name":"Khalid Shakir","is_ca":false},{"name":"Peter D. Stenson","is_ca":false},{"name":"Christine Stevens","is_ca":false},{"name":"Brett Thomas","is_ca":false},{"name":"Grace Tiao","is_ca":false},{"name":"Maria T. Tusie-Luna","is_ca":false},{"name":"Ben Weisburd","is_ca":false},{"name":"Hong‐Hee Won","is_ca":false},{"name":"Dongmei Yu","is_ca":false},{"name":"David Altshuler","is_ca":false},{"name":"Diego Ardissino","is_ca":false},{"name":"Michael Boehnke","is_ca":false},{"name":"John Danesh","is_ca":false},{"name":"Stacey Donnelly","is_ca":false},{"name":"Roberto Elosúa","is_ca":false},{"name":"José C. Florez","is_ca":false},{"name":"Stacey Gabriel","is_ca":false},{"name":"Gad Getz","is_ca":false},{"name":"Stephen J. Glatt","is_ca":false},{"name":"Christina M. Hultman","is_ca":false},{"name":"Sekar Kathiresan","is_ca":false},{"name":"Markku Laakso","is_ca":false},{"name":"Steven A. McCarroll","is_ca":false},{"name":"Mark I. McCarthy","is_ca":false},{"name":"Dermot McGovern","is_ca":false},{"name":"Ruth McPherson","is_ca":true},{"name":"Benjamin M. Neale","is_ca":false},{"name":"Aarno Palotie","is_ca":false},{"name":"Shaun Purcell","is_ca":false},{"name":"Danish Saleheen","is_ca":false},{"name":"Jeremiah M. Scharf","is_ca":false},{"name":"Pamela Sklar","is_ca":false},{"name":"Patrick F. Sullivan","is_ca":false},{"name":"Jaakko Tuomilehto","is_ca":false},{"name":"Ming T. Tsuang","is_ca":false},{"name":"Hugh Watkins","is_ca":false},{"name":"James G. Wilson","is_ca":false},{"name":"Mark J. Daly","is_ca":false},{"name":"Daniel G. MacArthur","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.00383613387465043,"gpt":0.2304965279044191,"spread":0.2266603940297687,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009084953,0.0003004505,0.0005685255,0.001939883,0.0004876888,0.0006303554,0.0002489117,0.0005286504,0.00119046],"category_scores_gemma":[0.002476017,0.000239784,0.000503055,0.002323729,0.0002657411,0.0001852272,0.0006531009,0.0003450961,0.000979256],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001666471,"about_ca_system_score_gemma":0.0002229418,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00218885,"about_ca_topic_score_gemma":0.003206228,"domain_scores_codex":[0.9989582,0.0001412095,0.0001218131,0.0003533529,0.0003717999,0.00005356265],"domain_scores_gemma":[0.9992281,0.0002564112,0.00009804937,0.0002084048,0.0001180567,0.0000909561],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001621615,0.0001845101,0.5101993,0.0005719917,0.001533828,0.003061725,0.001777683,0.003393817,0.2419566,0.001962072,0.01460529,0.2191315],"study_design_scores_gemma":[0.0000893748,0.0001716387,0.9394249,0.00005515114,0.0001690524,0.002817323,0.000181918,0.001634662,0.01079339,0.001619881,0.04299281,0.00004994103],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9489872,0.003270224,0.009551995,0.0002535004,0.00004464097,0.00007515959,0.035016,0.0001785937,0.002622596],"genre_scores_gemma":[0.8295638,0.003662513,0.02609932,0.0005937281,0.0001099161,0.0002354074,0.1369107,0.0001938486,0.002630821],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00218885,"threshold_uncertainty_score":0.004804611,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3029661147","doi":"10.1038/s41586-020-2308-7","title":"The mutational constraint spectrum quantified from variation in 141,456 humans","year":2020,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10127,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Montreal Heart Institute; University of Ottawa","funders":"Common Fund; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Institute on Aging; Sanofi Genzyme; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Cancer Institute; British Heart Foundation; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Sanofi; Rosetrees Trust; BioMarin Pharmaceutical; National Science Foundation","keywords":"Gene; Genome; Biology; Computational biology; Annotation; Exome sequencing; Human genome; Genetics; Exome; Loss function; Phenotype; Function (biology); Mutation","authors":[{"name":"Konrad J. Karczewski","is_ca":false},{"name":"Laurent C. Francioli","is_ca":false},{"name":"Grace Tiao","is_ca":false},{"name":"Beryl B. Cummings","is_ca":false},{"name":"Jessica Alföldi","is_ca":false},{"name":"Qingbo S. Wang","is_ca":false},{"name":"Ryan L. Collins","is_ca":false},{"name":"Kristen M. Laricchia","is_ca":false},{"name":"Andrea Ganna","is_ca":false},{"name":"Daniel P. Birnbaum","is_ca":false},{"name":"Laura D. Gauthier","is_ca":false},{"name":"Harrison Brand","is_ca":false},{"name":"Matthew Solomonson","is_ca":false},{"name":"Nicholas A. Watts","is_ca":false},{"name":"Daniel R. Rhodes","is_ca":false},{"name":"Moriel Singer‐Berk","is_ca":false},{"name":"Eleina England","is_ca":false},{"name":"Eleanor G. Seaby","is_ca":false},{"name":"Jack A. Kosmicki","is_ca":false},{"name":"Raymond K. Walters","is_ca":false},{"name":"Katherine Tashman","is_ca":false},{"name":"Yossi Farjoun","is_ca":false},{"name":"Eric Banks","is_ca":false},{"name":"Timothy Poterba","is_ca":false},{"name":"Arcturus Wang","is_ca":false},{"name":"Cotton Seed","is_ca":false},{"name":"Nicola Whiffin","is_ca":false},{"name":"Jessica X. Chong","is_ca":false},{"name":"Kaitlin E. Samocha","is_ca":false},{"name":"Emma Pierce‐Hoffman","is_ca":false},{"name":"Zachary Zappala","is_ca":false},{"name":"Anne O’Donnell‐Luria","is_ca":false},{"name":"Eric Vallabh Minikel","is_ca":false},{"name":"Ben Weisburd","is_ca":false},{"name":"Monkol Lek","is_ca":false},{"name":"James S. Ware","is_ca":false},{"name":"Christopher Vittal","is_ca":false},{"name":"Irina M. Armean","is_ca":false},{"name":"Louis Bergelson","is_ca":false},{"name":"Kristian Cibulskis","is_ca":false},{"name":"Kristen M. Connolly","is_ca":false},{"name":"Miguel Covarrubias","is_ca":false},{"name":"Stacey Donnelly","is_ca":false},{"name":"Steven Ferriera","is_ca":false},{"name":"Stacey Gabriel","is_ca":false},{"name":"Jeff Gentry","is_ca":false},{"name":"Namrata Gupta","is_ca":false},{"name":"Thibault Jeandet","is_ca":false},{"name":"Diane Kaplan","is_ca":false},{"name":"Christopher Llanwarne","is_ca":false},{"name":"Ruchi Munshi","is_ca":false},{"name":"Sam Novod","is_ca":false},{"name":"Nikelle Petrillo","is_ca":false},{"name":"David Roazen","is_ca":false},{"name":"Valentín Ruano-Rubio","is_ca":false},{"name":"Andrea Saltzman","is_ca":false},{"name":"Molly Schleicher","is_ca":false},{"name":"José Soto","is_ca":false},{"name":"Kathleen Tibbetts","is_ca":false},{"name":"Charlotte Tolonen","is_ca":false},{"name":"Gordon Wade","is_ca":false},{"name":"Michael E. Talkowski","is_ca":false},{"name":"Carlos A. Aguilar‐Salinas","is_ca":false},{"name":"Tariq Ahmad","is_ca":false},{"name":"Christine M. Albert","is_ca":false},{"name":"Diego Ardissino","is_ca":false},{"name":"Gil Atzmon","is_ca":false},{"name":"John Barnard","is_ca":false},{"name":"Laurent Beaugerie","is_ca":false},{"name":"Emelia J. Benjamin","is_ca":false},{"name":"Michael Boehnke","is_ca":false},{"name":"Lori L. Bonnycastle","is_ca":false},{"name":"Erwin P. Böttinger","is_ca":false},{"name":"Donald W. Bowden","is_ca":false},{"name":"Matthew J. Bown","is_ca":false},{"name":"John C. Chambers","is_ca":false},{"name":"Juliana C.N. Chan","is_ca":false},{"name":"Daniel I. Chasman","is_ca":false},{"name":"Judy H. Cho","is_ca":false},{"name":"Mina K. Chung","is_ca":false},{"name":"Bruce M. Cohen","is_ca":false},{"name":"Adolfo Correa","is_ca":false},{"name":"Dana Dabelea","is_ca":false},{"name":"Mark J. Daly","is_ca":false},{"name":"Dawood Darbar","is_ca":false},{"name":"Ravindranath Duggirala","is_ca":false},{"name":"Josée Dupuis","is_ca":false},{"name":"Patrick T. Ellinor","is_ca":false},{"name":"Roberto Elosúa","is_ca":false},{"name":"Jeanette Erdmann","is_ca":false},{"name":"Tõnu Esko","is_ca":false},{"name":"Martti Färkkilâ","is_ca":false},{"name":"José C. Florez","is_ca":false},{"name":"André Franke","is_ca":false},{"name":"Gad Getz","is_ca":false},{"name":"Benjamin Gläser","is_ca":false},{"name":"Stephen J. Glatt","is_ca":false},{"name":"David Goldstein","is_ca":false},{"name":"Clicerio González","is_ca":false},{"name":"Leif Groop","is_ca":false},{"name":"Christopher Haiman","is_ca":false},{"name":"Craig L. Hanis","is_ca":false},{"name":"Matthew Harms","is_ca":false},{"name":"Mikko Hiltunen","is_ca":false},{"name":"Matti Holi","is_ca":false},{"name":"Christina M. Hultman","is_ca":false},{"name":"Mikko Kallela","is_ca":false},{"name":"Jaakko Kaprio","is_ca":false},{"name":"Sekar Kathiresan","is_ca":false},{"name":"Bong-Jo Kim","is_ca":false},{"name":"Young Jin Kim","is_ca":false},{"name":"George Kirov","is_ca":false},{"name":"Jaspal S. Kooner","is_ca":false},{"name":"Seppo Koskinen","is_ca":false},{"name":"Harlan M. Krumholz","is_ca":false},{"name":"Subra Kugathasan","is_ca":false},{"name":"Soo Heon Kwak","is_ca":false},{"name":"Markku Laakso","is_ca":false},{"name":"Terho Lehtimäki","is_ca":false},{"name":"Ruth J. F. Loos","is_ca":false},{"name":"Steven A. Lubitz","is_ca":false},{"name":"Ronald C.W.","is_ca":false},{"name":"Daniel G. MacArthur","is_ca":false},{"name":"Jaume Marrugat","is_ca":false},{"name":"Kari M. Mattila","is_ca":false},{"name":"Steven A. McCarroll","is_ca":false},{"name":"Mark I. McCarthy","is_ca":false},{"name":"Dermot McGovern","is_ca":false},{"name":"Ruth McPherson","is_ca":true},{"name":"James B. Meigs","is_ca":false},{"name":"Olle Melander","is_ca":false},{"name":"Andres Metspalu","is_ca":false},{"name":"Benjamin M. Neale","is_ca":false},{"name":"Peter M. Nilsson","is_ca":false},{"name":"Michael O‘Donovan","is_ca":false},{"name":"Döst Öngür","is_ca":false},{"name":"Lorena Orozco","is_ca":false},{"name":"Michael J. Owen","is_ca":false},{"name":"Aarno Palotie","is_ca":false},{"name":"Kyong Soo Park","is_ca":false},{"name":"Carlos N. Pato","is_ca":false},{"name":"Ann E. Pulver","is_ca":false},{"name":"Nazneen Rahman","is_ca":false},{"name":"Anne M. Remes","is_ca":false},{"name":"John D. Rioux","is_ca":true},{"name":"Samuli Ripatti","is_ca":false},{"name":"Dan M. Roden","is_ca":false},{"name":"Danish Saleheen","is_ca":false},{"name":"Veikko Salomaa","is_ca":false},{"name":"Nilesh J. Samani","is_ca":false},{"name":"Jeremiah M. Scharf","is_ca":false},{"name":"Heribert Schunkert","is_ca":false},{"name":"M. Benjamin Shoemaker","is_ca":false},{"name":"Pamela Sklar","is_ca":false},{"name":"Hilkka Soininen","is_ca":false},{"name":"Harry Sokol","is_ca":false},{"name":"Tim D. Spector","is_ca":false},{"name":"Patrick F. Sullivan","is_ca":false},{"name":"Jaana Suvisaari","is_ca":false},{"name":"E Shyong Tai","is_ca":false},{"name":"Yik Ying Teo","is_ca":false},{"name":"Ming T. Tsuang","is_ca":false},{"name":"Dan Turner","is_ca":false},{"name":"Teresa Tusié‐Luna","is_ca":false},{"name":"Erkki Vartiainen","is_ca":false},{"name":"Marquis P. Vawter","is_ca":false},{"name":"Hugh Watkins","is_ca":false},{"name":"Rinse K. Weersma","is_ca":false},{"name":"Maija Wessman","is_ca":false},{"name":"James G. Wilson","is_ca":false},{"name":"Ramnik J. Xavier","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.007021155401284386,"gpt":0.2355262804310669,"spread":0.2285051250297825,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000788631,0.0002394352,0.0004111938,0.001543389,0.0004118122,0.0005879323,0.0002418387,0.0003279361,0.001426102],"category_scores_gemma":[0.002796918,0.0001290797,0.0003275965,0.001828363,0.0002861559,0.0001819048,0.0005011628,0.0001716355,0.0002226882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002206171,"about_ca_system_score_gemma":0.0001422098,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002915419,"about_ca_topic_score_gemma":0.002927333,"domain_scores_codex":[0.9992219,0.0001876964,0.00006624941,0.0003516831,0.0001229372,0.00004953861],"domain_scores_gemma":[0.9988906,0.0006101606,0.0001963602,0.000154857,0.00008238634,0.00006564229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005724869,0.00003912507,0.9509937,0.00007798748,0.0003884568,0.0005785206,0.0004028555,0.006159015,0.01726541,0.001029234,0.0007052557,0.02178789],"study_design_scores_gemma":[0.00001833418,0.00007806854,0.9842098,0.00001111742,0.00008117905,0.001026544,0.0001386796,0.00929849,0.001738491,0.001548025,0.001833159,0.00001811882],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970694,0.0001234821,0.001158292,0.00001363225,0.000001329939,0.000004686936,0.00128579,0.00001580463,0.0003276221],"genre_scores_gemma":[0.9958264,0.00007472875,0.0009420927,0.00001368416,0.000003824559,0.00001093694,0.003008833,0.000009937119,0.0001094324],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002915419,"threshold_uncertainty_score":0.005796969,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2171777347","doi":"10.1038/nature09534","title":"A map of human genome variation from population-scale sequencing","year":2010,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8075,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Simon Fraser University; Université de Montréal; Centre Hospitalier de l’Université de Montréal; McGill University","funders":"National Center for Research Resources; National Institute of Environmental Health Sciences; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Mental Health; National High-tech Research and Development Program; Engineering and Physical Sciences Research Council; Max-Planck-Gesellschaft; Howard Hughes Medical Institute; National Natural Science Foundation of China; Louis-Jeantet Foundation; Deutsche Forschungsgemeinschaft; Leverhulme Trust; Government of Jiangxi Province; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; National Institute on Alcohol Abuse and Alcoholism; National Key Research and Development Program of China; U.S. National Library of Medicine; British Heart Foundation; Doris Duke Charitable Foundation; Wellcome Trust; Translational Genomics Research Institute; National Science Foundation; Pew Charitable Trusts; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Medical Research Council; Ministero dello Sviluppo Economico","keywords":"1000 Genomes Project; Genetics; Biology; Genome; Human genome; Structural variation; Haplotype; Reference genome; DNA sequencing; Genomics; Population; Allele frequency; Computational biology; Single-nucleotide polymorphism; Allele; Gene; Genotype","authors":[],"retraction":null,"screen_n_in":null,"score":{"opus":0.0037086023042886,"gpt":0.2324753325618751,"spread":0.2287667302575865,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001527339,0.0008124475,0.0009718881,0.006475384,0.0006249651,0.00201586,0.0007388907,0.0009368311,0.005908993],"category_scores_gemma":[0.005165231,0.0004676226,0.001123792,0.008689008,0.0005972062,0.0009560105,0.00161836,0.002213883,0.003129852],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001169158,"about_ca_system_score_gemma":0.002373625,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009464724,"about_ca_topic_score_gemma":0.005801638,"domain_scores_codex":[0.9987815,0.0002084432,0.00006988781,0.0004764876,0.0003714938,0.00009215009],"domain_scores_gemma":[0.9985871,0.0004594856,0.0003031029,0.0001649464,0.0003302874,0.0001549946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0008152429,0.00021348,0.09822878,0.004977958,0.002152027,0.002950715,0.002274216,0.02015929,0.05871809,0.0390733,0.06859689,0.70184],"study_design_scores_gemma":[0.0002449708,0.0003842917,0.5418173,0.0009399026,0.0006345774,0.00190715,0.0006678144,0.009008663,0.003534305,0.09902409,0.3416333,0.0002037032],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3379416,0.06781268,0.3475483,0.00889749,0.001468589,0.001178413,0.1548849,0.007111973,0.07315613],"genre_scores_gemma":[0.5537472,0.03503824,0.2468473,0.002406546,0.0007900142,0.001395595,0.1513475,0.0007318812,0.00769577],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.009464724,"threshold_uncertainty_score":0.01976758,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2058401000","doi":"10.1038/nature02168","title":"The International HapMap Project","year":2003,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6170,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Genome Canada; Université du Québec à Montréal; McGill University and Génome Québec Innovation Centre; McGill University","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Dental and Craniofacial Research; National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Research Resources; National Institute of Allergy and Infectious Diseases; National Institute of General Medical Sciences; W. M. Keck Foundation; National Institute on Deafness and Other Communication Disorders; National Institute on Drug Abuse; National Institute of Mental Health; National Cancer Institute; National Eye Institute; National Institute on Alcohol Abuse and Alcoholism; National Institutes of Health; Ministry of Education, Culture, Sports, Science and Technology; Ministry of Science and Technology of the People's Republic of China; National Natural Science Foundation of China; Beijing Normal University; Chinese Academy of Sciences; University Grants Committee; National Human Genome Research Institute; Innovation and Technology Commission; National Institute on Aging; Wellcome Trust; McGill University; Genome Canada","keywords":"International HapMap Project; Human genome; Sequence (biology); DNA sequencing; 1000 Genomes Project; Computational biology; Genome; Biology; Evolutionary biology; Genetics; Geography; Genotype; DNA; Gene","authors":[{"name":"Richard A. Gibbs","is_ca":false},{"name":"John W. Belmont","is_ca":false},{"name":"Paul Hardenbol","is_ca":false},{"name":"T. D. Willis","is_ca":false},{"name":"Fuli Yu","is_ca":false},{"name":"Huanming Yang","is_ca":false},{"name":"Wei Huang","is_ca":false},{"name":"Bin Liu","is_ca":false},{"name":"Yan Shen","is_ca":false},{"name":"Paul Kwong Hang Tam","is_ca":false},{"name":"Mary Miu Yee Waye","is_ca":false},{"name":"J. Tze‐Fei Wong","is_ca":false},{"name":"Changqing Zeng","is_ca":false},{"name":"Qingrun Zhang","is_ca":false},{"name":"Mark S. Chee","is_ca":false},{"name":"Luana Galver","is_ca":false},{"name":"Semyon Kruglyak","is_ca":false},{"name":"Sarah S. Murray","is_ca":true},{"name":"Arnold Oliphant","is_ca":true},{"name":"Alexandre Montpetit","is_ca":true},{"name":"Thomas J. Hudson","is_ca":true},{"name":"Fanny Chagnon","is_ca":true},{"name":"Vincent Ferretti","is_ca":true},{"name":"Martin Leboeuf","is_ca":true},{"name":"Michael Phillips","is_ca":true},{"name":"Andrei Verner","is_ca":true},{"name":"Shenghui Duan","is_ca":false},{"name":"Denise L. Lind","is_ca":false},{"name":"Raymond D. Miller","is_ca":false},{"name":"John P. Rice","is_ca":false},{"name":"Nancy L. Saccone","is_ca":false},{"name":"Patricia Taillon‐Miller","is_ca":false},{"name":"Ming Xiao","is_ca":false},{"name":"Yusuke Nakamura","is_ca":false},{"name":"Akihiro Sekine","is_ca":false},{"name":"Koki Sorimachi","is_ca":false},{"name":"Toshihiro Tanaka","is_ca":false},{"name":"Yoïchi Tanaka","is_ca":false},{"name":"Tatsuhiko Tsunoda","is_ca":false},{"name":"Eiji Yoshino","is_ca":false},{"name":"David Bentley","is_ca":false},{"name":"Panos Deloukas","is_ca":false},{"name":"Sarah Hunt","is_ca":false},{"name":"Don Powell","is_ca":false},{"name":"Houcan Zhang","is_ca":false},{"name":"Ichiro Matsuda","is_ca":false},{"name":"Yoshimitsu Fukushima","is_ca":false},{"name":"Darryl Macer","is_ca":false},{"name":"Eiko Suda","is_ca":false},{"name":"Charles N. Rotimi","is_ca":false},{"name":"Clement Adebamowo","is_ca":false},{"name":"Toyin Aniagwu","is_ca":false},{"name":"Olayemi Matthew","is_ca":false},{"name":"Chibuzor Nkwodimmah","is_ca":false},{"name":"Mark Leppert","is_ca":false},{"name":"Missy Dixon","is_ca":false},{"name":"Fiona Cunningham","is_ca":false},{"name":"Ardavan Kanani","is_ca":false},{"name":"Guðmundur Á. Þórisson","is_ca":false},{"name":"Aravinda Chakravarti","is_ca":false},{"name":"Peter E. Chen","is_ca":false},{"name":"David J. Cutler","is_ca":false},{"name":"Carl Kashuk","is_ca":false},{"name":"Peter Donnelly","is_ca":false},{"name":"Jonathan Marchini","is_ca":false},{"name":"Gil McVean","is_ca":false},{"name":"Simon Myers","is_ca":false},{"name":"Gonçalo R. Abecasis","is_ca":false},{"name":"Andrew P. Morris","is_ca":false},{"name":"Bruce S. Weir","is_ca":false},{"name":"James C. Mullikin","is_ca":false},{"name":"Stephen T. Sherry","is_ca":false},{"name":"Michael Feolo","is_ca":false},{"name":"Mark Daly","is_ca":false},{"name":"Ren-Zong Qiu","is_ca":true},{"name":"Alastair Kent","is_ca":false},{"name":"Georgia M. Dunston","is_ca":false},{"name":"Norio Niikawa","is_ca":false},{"name":"Bartha Maria Knoppers","is_ca":true},{"name":"Morris W. Foster","is_ca":false},{"name":"Ellen Wright Clayton","is_ca":false},{"name":"Vivian Ota Wang","is_ca":false},{"name":"Jessica Watkin","is_ca":false},{"name":"Erica Sodergren","is_ca":false},{"name":"George M. Weinstock","is_ca":false},{"name":"Richard K. Wilson","is_ca":false},{"name":"Lucinda Fulton","is_ca":false},{"name":"Jane Rogers","is_ca":false},{"name":"Susan J. Birren","is_ca":false},{"name":"Hua Han","is_ca":false},{"name":"Hongguang Wang","is_ca":false},{"name":"Martin Godbout","is_ca":true},{"name":"John C. Wallenburg","is_ca":true},{"name":"Paul L'Archevêque","is_ca":true},{"name":"Guy Bellemare","is_ca":true},{"name":"Kazuo Todani","is_ca":true},{"name":"Satoshi Tanaka","is_ca":false},{"name":"Arthur L. Holden","is_ca":false},{"name":"Eric Lai","is_ca":false},{"name":"Francis S. Collins","is_ca":false},{"name":"Lisa D. Brooks","is_ca":false},{"name":"Jean E. McEwen","is_ca":false},{"name":"Mark S. Guyer","is_ca":false},{"name":"Elke Jordan","is_ca":false},{"name":"Jane L. Peterson","is_ca":false},{"name":"Jack Spiegel","is_ca":false},{"name":"Lawrence M. Sung","is_ca":false},{"name":"Lynn F. Zacharia","is_ca":false},{"name":"Karen Kennedy","is_ca":false},{"name":"Michael Dunn","is_ca":false},{"name":"Richard Seabrook","is_ca":false},{"name":"Mark Shillito","is_ca":false},{"name":"Barbara Skene","is_ca":true},{"name":"John Stewart","is_ca":false},{"name":"David Valle","is_ca":false},{"name":"Lynn B. Jorde","is_ca":false},{"name":"Mildred K. Cho","is_ca":false},{"name":"Troy Duster","is_ca":false},{"name":"Júlio Licinio","is_ca":false},{"name":"Jeffrey C. Long","is_ca":false},{"name":"Pilar N. Ossorio","is_ca":false},{"name":"Charmaine D M Royal","is_ca":false},{"name":"Patricia Spallone","is_ca":false},{"name":"Sharon F. Terry","is_ca":false},{"name":"Eric S. Lander","is_ca":false},{"name":"Deborah A. Nickerson","is_ca":false},{"name":"Michael Boehnke","is_ca":false},{"name":"Julie A. Douglas","is_ca":false},{"name":"Richard R. Hudson","is_ca":false},{"name":"Leonid Kruglyak","is_ca":false},{"name":"Robert L. Nussbaum","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.004320330728464972,"gpt":0.2519751146178553,"spread":0.2476547838893904,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00561925,0.001419652,0.001591399,0.006358938,0.001321195,0.002382466,0.001627606,0.001259886,0.05424478],"category_scores_gemma":[0.01687384,0.0005810011,0.001150124,0.01257751,0.0006281551,0.001220887,0.003319658,0.002123623,0.02661706],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009510294,"about_ca_system_score_gemma":0.003111238,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01651938,"about_ca_topic_score_gemma":0.006716087,"domain_scores_codex":[0.9957888,0.001906025,0.0003439067,0.0008545236,0.0007921093,0.0003146379],"domain_scores_gemma":[0.995282,0.001238856,0.0005316911,0.001143357,0.001382014,0.0004221442],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0004296647,0.0001028392,0.0225719,0.00107215,0.0006238351,0.0002499667,0.0006762256,0.0008861783,0.000626763,0.01423159,0.7185968,0.2399322],"study_design_scores_gemma":[0.0002232845,0.00007850127,0.06672906,0.0006085354,0.0003334575,0.0008741604,0.0003178623,0.0006936701,0.0003479786,0.0182577,0.9114597,0.00007606029],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.02630116,0.02641425,0.09229095,0.01285932,0.003924413,0.004516983,0.6665789,0.004226078,0.162888],"genre_scores_gemma":[0.07445472,0.01380931,0.07009124,0.003661932,0.001324381,0.009618649,0.7800166,0.00113254,0.0458907],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.05424478,"threshold_uncertainty_score":0.1814668,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2138190873","doi":"10.1212/wnl.0b013e31821103e6","title":"Classification of primary progressive aphasia and its variants","year":2011,"lang":"en","type":"article","venue":"Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5112,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"National Center for Research Resources; National Institute on Deafness and Other Communication Disorders; National Institute on Aging; Australian Research Council; National Institutes of Health; University of Oxford; Vlaamse regering; KU Leuven; Bristol-Myers Squibb; Forest Laboratories; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Elan; Eisai; National Institute of Neurological Disorders and Stroke; University of Cambridge; Natural Sciences and Engineering Research Council of Canada; Baxter International; Pfizer; Heart and Stroke Foundation of Canada; Canadian Stroke Network; Wellcome Trust; GlaxoSmithKline; Alzheimer Society; H. Lundbeck A/S; Myriad Genetics; Eli Lilly and Company; Sanofi; Alzheimer's Association; U.S. Department of Veterans Affairs","keywords":"Primary progressive aphasia; Consistency (knowledge bases); Operationalization; Natural language processing; Computer science; Reliability (semiconductor); Aphasia; Medicine; Psychology; Artificial intelligence; Pathology; Frontotemporal dementia; Cognitive psychology; Disease; Dementia","authors":[{"name":"Maria‐Luisa Gorno‐Tempini","is_ca":false},{"name":"Argye E. Hillis","is_ca":false},{"name":"Sandra Weıntraub","is_ca":false},{"name":"Andrew Kertesz","is_ca":false},{"name":"Mario F. Mendez","is_ca":false},{"name":"Stefano F. Cappa","is_ca":false},{"name":"J. Ogar","is_ca":false},{"name":"Jonathan D. Rohrer","is_ca":false},{"name":"Sandra E. Black","is_ca":false},{"name":"Bradley F. Boeve","is_ca":false},{"name":"Facundo Manes","is_ca":false},{"name":"Nina F. Dronkers","is_ca":false},{"name":"Rik Vandenberghe","is_ca":false},{"name":"Katya Rascovsky","is_ca":false},{"name":"Karalyn Patterson","is_ca":false},{"name":"Bruce L. Miller","is_ca":false},{"name":"David S. Knopman","is_ca":false},{"name":"J. R. Hodges","is_ca":false},{"name":"Marsel Mesulam","is_ca":false},{"name":"Owen A. Ross","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02066141655912305,"gpt":0.2295707053661054,"spread":0.2089092888069824,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001410197,0.000687117,0.0006700924,0.004389904,0.000689655,0.001480118,0.001130126,0.0006806795,0.001492638],"category_scores_gemma":[0.004023273,0.0001307992,0.0006816364,0.001406995,0.001271266,0.0009374218,0.001044558,0.000967939,0.0007283179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005816197,"about_ca_system_score_gemma":0.0009861826,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002119506,"about_ca_topic_score_gemma":0.002638115,"domain_scores_codex":[0.9985706,0.0002594822,0.0004270979,0.0001562852,0.0004456771,0.0001408043],"domain_scores_gemma":[0.9981501,0.0004836511,0.0004550656,0.0001422019,0.0005438196,0.0002252379],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0008341278,0.0001515067,0.3315952,0.0008520067,0.0002668692,0.01933736,0.002091394,0.002286173,0.01923648,0.03047765,0.01830541,0.5745658],"study_design_scores_gemma":[0.000180357,0.001111072,0.5394238,0.001054241,0.0004271833,0.2958622,0.002502721,0.01148162,0.007763302,0.07472727,0.0652348,0.0002313818],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8250002,0.03491678,0.06031875,0.004670748,0.001436593,0.001026782,0.002493337,0.001178935,0.06895795],"genre_scores_gemma":[0.945116,0.005502869,0.04205347,0.0004683911,0.0004819429,0.0002219116,0.002150712,0.0001237805,0.003880766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004389904,"threshold_uncertainty_score":0.007457972,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2521967673","doi":"10.1016/j.ajhg.2016.08.016","title":"REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2986,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Montreal General Hospital","funders":"National Human Genome Research Institute; National Institute of Mental Health; National Cancer Institute; National Institute for Health and Care Research; U.S. National Library of Medicine; Emory University","keywords":"Missense mutation; Pathogenicity; Genetics; Computational biology; Biology; Computer science; Mutation; Gene","authors":[{"name":"Nilah M. Ioannidis","is_ca":false},{"name":"Joseph H. Rothstein","is_ca":false},{"name":"Vikas Pejaver","is_ca":false},{"name":"Sumit Middha","is_ca":false},{"name":"Shannon K. McDonnell","is_ca":false},{"name":"Saurabh Baheti","is_ca":false},{"name":"Anthony M. Musolf","is_ca":false},{"name":"Qing Li","is_ca":false},{"name":"Emily Holzinger","is_ca":false},{"name":"Danielle M. Karyadi","is_ca":false},{"name":"Lisa Cannon‐Albright","is_ca":false},{"name":"Craig C. Teerlink","is_ca":false},{"name":"Janet L. Stanford","is_ca":false},{"name":"William B. Isaacs","is_ca":false},{"name":"Jianfeng Xu","is_ca":false},{"name":"Kathleen A. Cooney","is_ca":false},{"name":"Ethan M. Lange","is_ca":false},{"name":"Johanna Schleutker","is_ca":false},{"name":"John D. Carpten","is_ca":false},{"name":"Isaac J. Powell","is_ca":false},{"name":"Olivier Cussenot","is_ca":false},{"name":"Géraldine Cancel‐Tassin","is_ca":false},{"name":"Graham G. Giles","is_ca":false},{"name":"Robert J. MacInnis","is_ca":false},{"name":"Christiane Maier","is_ca":false},{"name":"Chih‐Lin Hsieh","is_ca":false},{"name":"Fredrik Wiklund","is_ca":false},{"name":"William J. Catàlona","is_ca":false},{"name":"William D. Foulkes","is_ca":true},{"name":"Diptasri Mandal","is_ca":false},{"name":"Rosalind A. Eeles","is_ca":false},{"name":"Zsofia Kote‐Jarai","is_ca":false},{"name":"Carlos D. Bustamante","is_ca":false},{"name":"Daniel J. Schaid","is_ca":false},{"name":"Trevor Hastie","is_ca":false},{"name":"Elaine A. Ostrander","is_ca":false},{"name":"Joan E. Bailey‐Wilson","is_ca":false},{"name":"Predrag Radivojac","is_ca":false},{"name":"Stephen N. Thibodeau","is_ca":false},{"name":"Alice S. Whittemore","is_ca":false},{"name":"Weiva Sieh","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01700784366975837,"gpt":0.3017367329907316,"spread":0.2847288893209732,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003127375,0.001827927,0.002283439,0.002967309,0.0006854045,0.0008292932,0.002289525,0.001773522,0.001773204],"category_scores_gemma":[0.005766334,0.0005860737,0.002023008,0.00129489,0.0002628471,0.001060724,0.001509237,0.001981084,0.0009881543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004274038,"about_ca_system_score_gemma":0.001136047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004765741,"about_ca_topic_score_gemma":0.008224417,"domain_scores_codex":[0.9987891,0.0003958029,0.00009825842,0.0002982413,0.00029939,0.0001192062],"domain_scores_gemma":[0.9970901,0.001906788,0.0001501539,0.0003201136,0.0003930184,0.0001399076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001419577,0.0006809435,0.04106112,0.0004401614,0.003199193,0.0008434214,0.0001244568,0.2624953,0.009979056,0.001693699,0.03908721,0.6389759],"study_design_scores_gemma":[0.00006959141,0.0001531469,0.002135677,0.00002650175,0.0002245277,0.0002156155,0.00001731106,0.9910432,0.001321868,0.00297036,0.001790015,0.00003205244],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.2163251,0.006384211,0.7382658,0.001228953,0.0008004869,0.0004354013,0.01234879,0.02107997,0.003131378],"genre_scores_gemma":[0.6683024,0.001312464,0.3025369,0.001048633,0.0006187601,0.000551765,0.02191345,0.0007271956,0.002988422],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.004765741,"threshold_uncertainty_score":0.01653939,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2309021002","doi":"10.1002/humu.22981","title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","year":2016,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1696,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Strong","keywords":"Sequence (biology); Human genome; Biology; Genome; Reference genome; Computer science; Computational biology; Data science; Genetics; Gene","authors":[{"name":"Johan T. den Dunnen","is_ca":false},{"name":"Raymond Dalgleish","is_ca":false},{"name":"Donna Maglott","is_ca":false},{"name":"Reece K. Hart","is_ca":false},{"name":"Marc S. Greenblatt","is_ca":false},{"name":"Jean McGowan‐Jordan","is_ca":true},{"name":"Anne‐Françoise Roux","is_ca":false},{"name":"Tim D. Smith","is_ca":false},{"name":"Stylianos E. Antonarakis","is_ca":false},{"name":"Peter E.M. Taschner","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04410373631678449,"gpt":0.3012672856171216,"spread":0.2571635493003371,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.02059504,0.001829821,0.002261184,0.01237213,0.001099672,0.004361931,0.007182089,0.004427939,0.05059332],"category_scores_gemma":[0.06980012,0.001792949,0.003157687,0.01261038,0.001410092,0.003569701,0.003547788,0.00672162,0.05270785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00299919,"about_ca_system_score_gemma":0.008095698,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03881108,"about_ca_topic_score_gemma":0.02874825,"domain_scores_codex":[0.9865851,0.003851901,0.004268032,0.001002403,0.003683394,0.0006090434],"domain_scores_gemma":[0.9635101,0.00980913,0.003082804,0.003165209,0.01911952,0.001313204],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001199942,0.00004515425,0.001088035,0.001440134,0.00006967558,0.0001075126,0.0002370474,0.0003924984,0.0004538915,0.001653515,0.9063246,0.08806793],"study_design_scores_gemma":[0.00007240531,0.00002451451,0.002308961,0.002187863,0.00008693436,0.0003051225,0.0001293344,0.0001865034,0.000453384,0.002356965,0.9918309,0.00005711852],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.007800925,0.07090659,0.1238437,0.08721942,0.0522367,0.004253319,0.5300213,0.02374502,0.09997313],"genre_scores_gemma":[0.009003927,0.04838717,0.1713246,0.0261058,0.003558965,0.00574859,0.667623,0.008779094,0.05946888],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.979405,"threshold_uncertainty_score":0.1692515,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3032034316","doi":"10.1038/s41586-020-2287-8","title":"A structural variation reference for medical and population genetics","year":2020,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1165,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Montreal Heart Institute; University of Ottawa","funders":"National Center for Research Resources; National Institute of Dental and Craniofacial Research; National Institute of General Medical Sciences; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute; Rosetrees Trust; National Institute of Diabetes and Digestive and Kidney Diseases; Simons Foundation Autism Research Initiative; British Heart Foundation; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; Simons Foundation; National Science Foundation","keywords":"Variation (astronomy); Medical genetics; Population genetics; Population; Genetics; Evolutionary biology; Biology; Genetic variation; Demography; Sociology; Physics; Gene; Astronomy","authors":[{"name":"Ryan L. Collins","is_ca":false},{"name":"Harrison Brand","is_ca":false},{"name":"Konrad J. Karczewski","is_ca":false},{"name":"Xuefang Zhao","is_ca":false},{"name":"Laurent C. Francioli","is_ca":false},{"name":"Amit Khera","is_ca":false},{"name":"Chelsea Lowther","is_ca":false},{"name":"Laura D. Gauthier","is_ca":false},{"name":"Harold Wang","is_ca":false},{"name":"Nicholas A. Watts","is_ca":false},{"name":"Matthew Solomonson","is_ca":false},{"name":"Anne O’Donnell‐Luria","is_ca":false},{"name":"Alexander Baumann","is_ca":false},{"name":"Ruchi Munshi","is_ca":false},{"name":"Mark Walker","is_ca":false},{"name":"Christopher W. Whelan","is_ca":false},{"name":"Yongqing Huang","is_ca":false},{"name":"Ted Brookings","is_ca":false},{"name":"Ted Sharpe","is_ca":false},{"name":"Matthew R. Stone","is_ca":false},{"name":"Elise Valkanas","is_ca":false},{"name":"Jack Fu","is_ca":false},{"name":"Grace Tiao","is_ca":false},{"name":"Kristen M. Laricchia","is_ca":false},{"name":"Valentín Ruano-Rubio","is_ca":false},{"name":"Christine Stevens","is_ca":false},{"name":"Namrata Gupta","is_ca":false},{"name":"Caroline Cusick","is_ca":false},{"name":"Lauren Margolin","is_ca":false},{"name":"Irina M. Armean","is_ca":false},{"name":"Eric Banks","is_ca":false},{"name":"Louis Bergelson","is_ca":false},{"name":"Kristian Cibulskis","is_ca":false},{"name":"Kristen M. Connolly","is_ca":false},{"name":"Miguel Covarrubias","is_ca":false},{"name":"Beryl B. Cummings","is_ca":false},{"name":"Stacey Donnelly","is_ca":false},{"name":"Yossi Farjoun","is_ca":false},{"name":"Steven Ferriera","is_ca":false},{"name":"Stacey Gabriel","is_ca":false},{"name":"Jeff Gentry","is_ca":false},{"name":"Thibault Jeandet","is_ca":false},{"name":"Diane Kaplan","is_ca":false},{"name":"Christopher Llanwarne","is_ca":false},{"name":"Eric Vallabh Minikel","is_ca":false},{"name":"Benjamin M. Neale","is_ca":false},{"name":"Sam Novod","is_ca":false},{"name":"Nikelle Petrillo","is_ca":false},{"name":"Timothy Poterba","is_ca":false},{"name":"David Roazen","is_ca":false},{"name":"Andrea Saltzman","is_ca":false},{"name":"Kaitlin E. Samocha","is_ca":false},{"name":"Molly Schleicher","is_ca":false},{"name":"Cotton Seed","is_ca":false},{"name":"José Soto","is_ca":false},{"name":"Kathleen Tibbetts","is_ca":false},{"name":"Charlotte Tolonen","is_ca":false},{"name":"Christopher Vittal","is_ca":false},{"name":"Gordon Wade","is_ca":false},{"name":"Arcturus Wang","is_ca":false},{"name":"Qingbo S. Wang","is_ca":false},{"name":"James S. Ware","is_ca":false},{"name":"Ben Weisburd","is_ca":false},{"name":"Nicola Whiffin","is_ca":false},{"name":"Carlos A. Aguilar‐Salinas","is_ca":false},{"name":"Tariq Ahmad","is_ca":false},{"name":"Christine M. Albert","is_ca":false},{"name":"Diego Ardissino","is_ca":false},{"name":"Gil Atzmon","is_ca":false},{"name":"J. A. Barnard","is_ca":false},{"name":"Laurent Beaugerie","is_ca":false},{"name":"Emelia J. Benjamin","is_ca":false},{"name":"Michael Boehnke","is_ca":false},{"name":"Lori L. Bonnycastle","is_ca":false},{"name":"Erwin P. Böttinger","is_ca":false},{"name":"Donald W. Bowden","is_ca":false},{"name":"Matthew J. Bown","is_ca":false},{"name":"John C. Chambers","is_ca":false},{"name":"Juliana C.N. Chan","is_ca":false},{"name":"Daniel I. Chasman","is_ca":false},{"name":"Judy H. Cho","is_ca":false},{"name":"Mina K. Chung","is_ca":false},{"name":"Bruce M. Cohen","is_ca":false},{"name":"Adolfo Correa","is_ca":false},{"name":"Dana Dabelea","is_ca":false},{"name":"Dawood Darbar","is_ca":false},{"name":"Ravindranath Duggirala","is_ca":false},{"name":"Josée Dupuis","is_ca":false},{"name":"Patrick T. Ellinor","is_ca":false},{"name":"Roberto Elosúa","is_ca":false},{"name":"Jeanette Erdmann","is_ca":false},{"name":"Tõnu Esko","is_ca":false},{"name":"Martti Färkkilâ","is_ca":false},{"name":"José C. Florez","is_ca":false},{"name":"André Franke","is_ca":false},{"name":"Gad Getz","is_ca":false},{"name":"Benjamin Gläser","is_ca":false},{"name":"Stephen J. Glatt","is_ca":false},{"name":"David B. Goldstein","is_ca":false},{"name":"Clicerio González","is_ca":false},{"name":"Leif Groop","is_ca":false},{"name":"Christopher A. Haiman","is_ca":false},{"name":"Craig L. Hanis","is_ca":false},{"name":"Matthew Harms","is_ca":false},{"name":"Mikko Hiltunen","is_ca":false},{"name":"Matti Holi","is_ca":false},{"name":"Christina M. Hultman","is_ca":false},{"name":"Mikko Kallela","is_ca":false},{"name":"Jaakko Kaprio","is_ca":false},{"name":"Bong-Jo Kim","is_ca":false},{"name":"Young Jin Kim","is_ca":false},{"name":"George Kirov","is_ca":false},{"name":"Jaspal S. Kooner","is_ca":false},{"name":"Seppo Koskinen","is_ca":false},{"name":"Harlan M. Krumholz","is_ca":false},{"name":"Subra Kugathasan","is_ca":false},{"name":"Soo Heon Kwak","is_ca":false},{"name":"Markku Laakso","is_ca":false},{"name":"Terho Lehtimäki","is_ca":false},{"name":"Ruth J. F. Loos","is_ca":false},{"name":"Steven A. Lubitz","is_ca":false},{"name":"Ronald C.W.","is_ca":false},{"name":"Jaume Marrugat","is_ca":false},{"name":"Kari M. Mattila","is_ca":false},{"name":"Steven A. McCarroll","is_ca":false},{"name":"Mark I. McCarthy","is_ca":false},{"name":"Dermot McGovern","is_ca":true},{"name":"Ruth McPherson","is_ca":true},{"name":"James B. Meigs","is_ca":false},{"name":"Olle Melander","is_ca":false},{"name":"Andres Metspalu","is_ca":false},{"name":"Peter M. Nilsson","is_ca":false},{"name":"Michael O‘Donovan","is_ca":false},{"name":"Döst Öngür","is_ca":false},{"name":"Lorena Orozco","is_ca":false},{"name":"Michael J. Owen","is_ca":false},{"name":"Aarno Palotie","is_ca":false},{"name":"Kyong Soo Park","is_ca":false},{"name":"Carlos N. Pato","is_ca":false},{"name":"Ann E. Pulver","is_ca":false},{"name":"Nazneen Rahman","is_ca":false},{"name":"Anne M. Remes","is_ca":true},{"name":"John D. Rioux","is_ca":true},{"name":"Samuli Ripatti","is_ca":false},{"name":"Dan M. Roden","is_ca":false},{"name":"Danish Saleheen","is_ca":false},{"name":"Veikko Salomaa","is_ca":false},{"name":"Jeremiah M. Scharf","is_ca":false},{"name":"Heribert Schunkert","is_ca":false},{"name":"M. Benjamin Shoemaker","is_ca":false},{"name":"Pamela Sklar","is_ca":false},{"name":"Hilkka Soininen","is_ca":false},{"name":"Harry Sokol","is_ca":false},{"name":"Tim D. Spector","is_ca":false},{"name":"Patrick F. Sullivan","is_ca":false},{"name":"Jaana Suvisaari","is_ca":false},{"name":"E Shyong Tai","is_ca":false},{"name":"Yik Ying Teo","is_ca":false},{"name":"Ming T. Tsuang","is_ca":false},{"name":"Dan Turner","is_ca":false},{"name":"Teresa Tusié‐Luna","is_ca":false},{"name":"Erkki Vartiainen","is_ca":false},{"name":"Marquis P. Vawter","is_ca":false},{"name":"Hugh Watkins","is_ca":false},{"name":"Rinse K. Weersma","is_ca":false},{"name":"Maija Wessman","is_ca":false},{"name":"James Wilson","is_ca":false},{"name":"Ramnik J. Xavier","is_ca":false},{"name":"Kent D. Taylor","is_ca":false},{"name":"Henry J. Lin","is_ca":false},{"name":"Stephen S. Rich","is_ca":false},{"name":"Wendy S. Post","is_ca":false},{"name":"Yii‐Der Ida Chen","is_ca":false},{"name":"Jerome I. Rotter","is_ca":false},{"name":"Chad Nusbaum","is_ca":false},{"name":"Anthony Philippakis","is_ca":false},{"name":"Eric S. Lander","is_ca":false},{"name":"Mark J. Daly","is_ca":false},{"name":"Michael E. Talkowski","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008573807390374081,"gpt":0.2653499120020689,"spread":0.2567761046116949,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004314975,0.0009683307,0.0008360302,0.01260243,0.001092515,0.00131047,0.002279246,0.001474943,0.03153041],"category_scores_gemma":[0.01713395,0.000353746,0.0007197366,0.01341002,0.0004771807,0.0006035799,0.001626922,0.001424141,0.01419894],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001034894,"about_ca_system_score_gemma":0.002126932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006877704,"about_ca_topic_score_gemma":0.006100964,"domain_scores_codex":[0.9971112,0.0006379797,0.0005334014,0.0007972165,0.0008068258,0.0001134017],"domain_scores_gemma":[0.9904662,0.002818766,0.000960767,0.002490754,0.002935684,0.0003279024],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0010658,0.0002745326,0.04661267,0.003229701,0.0005690762,0.001943072,0.002043823,0.003763664,0.03332872,0.03913855,0.3463122,0.5217181],"study_design_scores_gemma":[0.0001737793,0.0001825843,0.04756985,0.0005614305,0.0001928357,0.001735553,0.0001694346,0.002075658,0.005384813,0.008300914,0.9336069,0.00004625154],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.06793176,0.01288393,0.2346719,0.003880937,0.004420953,0.001331243,0.5805877,0.01629357,0.07799812],"genre_scores_gemma":[0.0996928,0.003827923,0.2953978,0.001305651,0.0008646602,0.001325261,0.5733229,0.003089969,0.021173],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.03153041,"threshold_uncertainty_score":0.1054797,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2142181526","doi":"10.2471/blt.07.050112","title":"Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years","year":2008,"lang":"en","type":"review","venue":"Bulletin of the World Health Organization","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":903,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"Canadian Institutes of Health Research","keywords":"Newborn screening; Disease; Harm; Medicine; Prenatal diagnosis; Agency (philosophy); Pediatrics; Intensive care medicine; Psychology; Pathology; Biology; Genetics; Pregnancy; Sociology","authors":[{"name":"Anne Andermann","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01878063755967043,"gpt":0.3053733087109077,"spread":0.2865926711512373,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004686529,0.001624197,0.003116709,0.00640814,0.0004647342,0.001795483,0.001988822,0.002427567,0.001222635],"category_scores_gemma":[0.009527888,0.0005970923,0.0007253001,0.005717676,0.002662592,0.004743484,0.001151225,0.003911567,0.0008398708],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001758924,"about_ca_system_score_gemma":0.002255606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003313052,"about_ca_topic_score_gemma":0.005697395,"domain_scores_codex":[0.9985476,0.0003742789,0.0003908614,0.0002670835,0.0003545006,0.00006555088],"domain_scores_gemma":[0.9940255,0.003899789,0.0004980784,0.000111029,0.001263828,0.000201854],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001178422,0.00005263622,0.0008571687,0.01373929,0.0001158899,0.0009948576,0.000200328,0.0003234016,0.0005129479,0.005269811,0.06844048,0.9093754],"study_design_scores_gemma":[0.00004550745,0.0001250534,0.003810865,0.02381382,0.0002687195,0.0127808,0.0004178704,0.0002137011,0.000383973,0.007140549,0.950906,0.00009326986],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00005665615,0.9982936,0.0001000521,0.001022903,0.0003891251,0.000001616514,0.000005841607,0.000003982221,0.0001261554],"genre_scores_gemma":[0.0008182203,0.996015,0.0002884775,0.001600144,0.00112137,0.00000432416,0.00002088025,0.000002738519,0.0001289057],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00640814,"threshold_uncertainty_score":0.02478504,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4223433728","doi":"10.1038/s41586-022-04556-w","title":"Rare coding variants in ten genes confer substantial risk for schizophrenia","year":2022,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":884,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Human Genome Research Institute; National Institute on Drug Abuse; National Institute on Aging; National Institute on Alcohol Abuse and Alcoholism; Canadian Institutes of Health Research; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Institute of Psychiatry, Psychology and Neuroscience, King’s College London; National Institutes of Health; Lundbeckfonden; Medical Research Council; Biogen; Dalio Foundation; Cardiff University; National Institute of Neurological Disorders and Stroke; Massachusetts General Hospital; National Institute for Health and Care Research; King's College London; Stanley Family Foundation; GlaxoSmithKline; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute","keywords":"Gene; Genetics; Schizophrenia (object-oriented programming); Biology; Computational biology; Medicine; Psychiatry","authors":[{"name":"Tarjinder Singh","is_ca":false},{"name":"Timothy Poterba","is_ca":false},{"name":"David Curtis","is_ca":false},{"name":"Huda Akil","is_ca":false},{"name":"Mariam Al Eissa","is_ca":false},{"name":"Jack D. Barchas","is_ca":false},{"name":"Nicholas Bass","is_ca":false},{"name":"Tim B. Bigdeli","is_ca":false},{"name":"Gerome Breen","is_ca":false},{"name":"Evelyn J. Bromet","is_ca":false},{"name":"P.F. Buckley","is_ca":false},{"name":"William E. Bunney","is_ca":false},{"name":"Jonas Bybjerg‐Grauholm","is_ca":false},{"name":"William Byerley","is_ca":false},{"name":"Sinéad B. Chapman","is_ca":false},{"name":"Wei J. Chen","is_ca":false},{"name":"Claire Churchhouse","is_ca":false},{"name":"Nicholas Craddock","is_ca":false},{"name":"Caroline Cusick","is_ca":false},{"name":"Lynn E. DeLisi","is_ca":false},{"name":"Sheila Dodge","is_ca":false},{"name":"Michael Escamilla","is_ca":false},{"name":"Saana Eskelinen","is_ca":false},{"name":"Ayman H. Fanous","is_ca":false},{"name":"Stephen V. Faraone","is_ca":false},{"name":"Alessia Fiorentino","is_ca":false},{"name":"Laurent C. Francioli","is_ca":false},{"name":"Stacey Gabriel","is_ca":false},{"name":"Diane Gage","is_ca":false},{"name":"Sarah A. Gagliano Taliun","is_ca":true},{"name":"Andrea Ganna","is_ca":false},{"name":"Giulio Genovese","is_ca":false},{"name":"David C. Glahn","is_ca":false},{"name":"Jakob Grove","is_ca":false},{"name":"Mei‐Hua Hall","is_ca":false},{"name":"Eija Hämäläinen","is_ca":false},{"name":"Henrike Heyne","is_ca":false},{"name":"Matti Holi","is_ca":false},{"name":"David M. Hougaard","is_ca":false},{"name":"Daniel P. Howrigan","is_ca":false},{"name":"Hailiang Huang","is_ca":false},{"name":"Hai‐Gwo Hwu","is_ca":false},{"name":"René S. Kahn","is_ca":false},{"name":"Hyun Min Kang","is_ca":false},{"name":"Konrad J. Karczewski","is_ca":false},{"name":"George Kirov","is_ca":false},{"name":"James A. Knowles","is_ca":false},{"name":"Francis S. Lee","is_ca":false},{"name":"Douglas S. Lehrer","is_ca":false},{"name":"Francesco Lescai","is_ca":false},{"name":"Dolores Malaspina","is_ca":false},{"name":"Stephen R. Marder","is_ca":false},{"name":"Steven A. McCarroll","is_ca":false},{"name":"Andrew M. McIntosh","is_ca":false},{"name":"Helena Medeiros","is_ca":false},{"name":"Lili Milani","is_ca":false},{"name":"Christopher P. Morley","is_ca":false},{"name":"Derek W. Morris","is_ca":false},{"name":"Preben Bo Mortensen","is_ca":false},{"name":"R Myers","is_ca":false},{"name":"Merete Nordentoft","is_ca":false},{"name":"Niamh L. O’Brien","is_ca":false},{"name":"Ana Maria Olivares","is_ca":false},{"name":"Döst Öngür","is_ca":false},{"name":"Willem H. Ouwehand","is_ca":false},{"name":"Duncan S. Palmer","is_ca":false},{"name":"Tiina Paunio","is_ca":false},{"name":"Digby Quested","is_ca":false},{"name":"Mark Hyman Rapaport","is_ca":false},{"name":"Elliott Rees","is_ca":false},{"name":"Brandi Rollins","is_ca":false},{"name":"F. Kyle Satterstrom","is_ca":false},{"name":"Alan F. Schatzberg","is_ca":false},{"name":"Edward M. Scolnick","is_ca":false},{"name":"Laura J. Scott","is_ca":false},{"name":"Sally I. Sharp","is_ca":false},{"name":"Pamela Sklar","is_ca":false},{"name":"Jordan W. Smoller","is_ca":false},{"name":"Janet L. Sobell","is_ca":false},{"name":"Matthew Solomonson","is_ca":false},{"name":"Eli A. Stahl","is_ca":false},{"name":"Christine Stevens","is_ca":false},{"name":"Jaana Suvisaari","is_ca":false},{"name":"Grace Tiao","is_ca":false},{"name":"Stanley J. Watson","is_ca":false},{"name":"Nicholas A. Watts","is_ca":false},{"name":"Douglas Blackwood","is_ca":false},{"name":"Anders D. Børglum","is_ca":false},{"name":"Bruce M. Cohen","is_ca":false},{"name":"Aiden Corvin","is_ca":false},{"name":"Tõnu Esko","is_ca":false},{"name":"Nelson B. Freimer","is_ca":false},{"name":"Stephen J. Glatt","is_ca":false},{"name":"Christina M. Hultman","is_ca":false},{"name":"Andrew McQuillin","is_ca":false},{"name":"Aarno Palotie","is_ca":false},{"name":"Carlos N. Pato","is_ca":false},{"name":"Michele T. Pato","is_ca":false},{"name":"Ann E. Pulver","is_ca":false},{"name":"David St Clair","is_ca":false},{"name":"Ming T. Tsuang","is_ca":false},{"name":"Marquis P. Vawter","is_ca":false},{"name":"James Walters","is_ca":false},{"name":"Thomas Werge","is_ca":false},{"name":"Roel A. Ophoff","is_ca":false},{"name":"Patrick F. Sullivan","is_ca":false},{"name":"Michael J. Owen","is_ca":false},{"name":"Michael Boehnke","is_ca":false},{"name":"Michael O‘Donovan","is_ca":false},{"name":"Benjamin M. Neale","is_ca":false},{"name":"Mark J. Daly","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006312918989591768,"gpt":0.239639758189981,"spread":0.2333268392003892,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00114493,0.0007331853,0.0006973061,0.001672165,0.0008143763,0.000873676,0.000507379,0.0008094431,0.006206454],"category_scores_gemma":[0.003608164,0.0003750605,0.001252999,0.001636617,0.0006792332,0.0002502588,0.0008215687,0.0005293248,0.0004639992],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004723147,"about_ca_system_score_gemma":0.0005296602,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003498483,"about_ca_topic_score_gemma":0.005598084,"domain_scores_codex":[0.9988012,0.0002141783,0.0001625518,0.0003997113,0.000228428,0.0001939405],"domain_scores_gemma":[0.9977077,0.001049701,0.0005926589,0.0002130079,0.0001454411,0.0002913954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004469585,0.0001199247,0.9053946,0.0003112838,0.001814251,0.006886453,0.0004170742,0.0009183123,0.04645539,0.0006928008,0.0007667063,0.03175366],"study_design_scores_gemma":[0.0001792701,0.0003829596,0.9837554,0.00009055909,0.001141653,0.006242886,0.0002112892,0.001698442,0.003265495,0.001328664,0.001637332,0.00006596417],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955429,0.0009666419,0.001382358,0.0001108757,0.00002414732,0.00002344562,0.001256424,0.0000551686,0.0006380348],"genre_scores_gemma":[0.9971275,0.0002923044,0.001279953,0.00007073537,0.00001842081,0.00001468376,0.0009349214,0.00001578077,0.0002458011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006206454,"threshold_uncertainty_score":0.02076268,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2949444664","doi":"10.1126/scitranslmed.aal5209","title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","year":2017,"lang":"en","type":"article","venue":"Science Translational Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":806,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children","funders":"National Institute on Minority Health and Health Disparities; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute for Health and Care Research; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Wellcome Trust; National Human Genome Research Institute; National Institute on Drug Abuse; National Cancer Institute; National Institutes of Health; National Heart, Lung, and Blood Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute","keywords":"Transcriptome; Mendelian inheritance; Disease; Biology; Genetics; DNA sequencing; Genetic diagnosis; Computational biology; Bioinformatics; Medicine; Gene; Pathology; Gene expression","authors":[{"name":"Beryl B. Cummings","is_ca":false},{"name":"Jamie L. Marshall","is_ca":false},{"name":"Taru Tukiainen","is_ca":false},{"name":"Monkol Lek","is_ca":false},{"name":"Sandra Donkervoort","is_ca":false},{"name":"A. Reghan Foley","is_ca":false},{"name":"Véronique Bolduc","is_ca":false},{"name":"Leigh B. Waddell","is_ca":false},{"name":"Sarah A. Sandaradura","is_ca":false},{"name":"Gina O’Grady","is_ca":false},{"name":"Elicia Estrella","is_ca":false},{"name":"Hemakumar M. Reddy","is_ca":false},{"name":"Fengmei Zhao","is_ca":false},{"name":"Ben Weisburd","is_ca":false},{"name":"Konrad J. Karczewski","is_ca":false},{"name":"Anne O’Donnell‐Luria","is_ca":false},{"name":"Daniel Birnbaum","is_ca":false},{"name":"Anna Sárközy","is_ca":false},{"name":"Ying Hu","is_ca":false},{"name":"Hernán Gonorazky","is_ca":true},{"name":"Kristl G. Claeys","is_ca":false},{"name":"Himanshu Joshi","is_ca":false},{"name":"Adam Bournazos","is_ca":false},{"name":"Emily C. Oates","is_ca":false},{"name":"Roula Ghaoui","is_ca":false},{"name":"Mark R. Davis","is_ca":false},{"name":"Nigel G. Laing","is_ca":false},{"name":"Ana Töpf","is_ca":false},{"name":"Peter B. Kang","is_ca":false},{"name":"Alan H. Beggs","is_ca":false},{"name":"Kathryn N. North","is_ca":false},{"name":"Volker Straub","is_ca":false},{"name":"James J. Dowling","is_ca":true},{"name":"Francesco Muntoni","is_ca":false},{"name":"Nigel F. Clarke","is_ca":false},{"name":"Sandra T. Cooper","is_ca":false},{"name":"Carsten G. Bönnemann","is_ca":false},{"name":"Daniel G. MacArthur","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01888292746181836,"gpt":0.2756943014173747,"spread":0.2568113739555563,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002023477,0.0004981628,0.0004746522,0.00127161,0.0003645209,0.0009771911,0.0003787381,0.0005061995,0.001801044],"category_scores_gemma":[0.004406512,0.0002538292,0.0004951769,0.0006745391,0.0003153999,0.0004258958,0.001040445,0.0006966522,0.0007737557],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003489848,"about_ca_system_score_gemma":0.0007250437,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001174404,"about_ca_topic_score_gemma":0.003340741,"domain_scores_codex":[0.998553,0.0006376674,0.0001163328,0.0002376774,0.0003269121,0.0001284782],"domain_scores_gemma":[0.9982144,0.0007165676,0.0003697405,0.0003387126,0.0002296253,0.0001309554],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005519355,0.0002724654,0.251528,0.0007224277,0.0006911806,0.0037238,0.0008791437,0.005291759,0.4957237,0.003722331,0.009200126,0.2276933],"study_design_scores_gemma":[0.0002580319,0.0007080443,0.6425025,0.0008876301,0.001091024,0.01753271,0.001748723,0.05877443,0.1890135,0.02155843,0.06576937,0.0001554891],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7970228,0.004523662,0.1774799,0.003027575,0.0004353669,0.0003636721,0.007479252,0.001281798,0.008385957],"genre_scores_gemma":[0.9054652,0.002102373,0.08590629,0.001007523,0.0001451171,0.0001512819,0.003854279,0.0001895987,0.001178507],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002023477,"threshold_uncertainty_score":0.0107013,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1980171391","doi":"10.1038/nrg3555","title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","year":2013,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":752,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"","keywords":"Biology; Identification (biology); Disease; DNA sequencing; Computational biology; Genetics; Rare disease; Gene; Bioinformatics; Medicine; Pathology","authors":[{"name":"Kym M. Boycott","is_ca":true},{"name":"Megan R. Vanstone","is_ca":true},{"name":"Dennis E. Bulman","is_ca":true},{"name":"Alex MacKenzie","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09544795469650916,"gpt":0.3383517776845714,"spread":0.2429038229880623,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00283658,0.001177232,0.002487864,0.002240888,0.0003546099,0.001770768,0.001645728,0.003061066,0.004538914],"category_scores_gemma":[0.004159744,0.0004126591,0.0007317021,0.001747108,0.001603452,0.002714767,0.001511268,0.004401657,0.00230306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001729231,"about_ca_system_score_gemma":0.00257442,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002123026,"about_ca_topic_score_gemma":0.00302789,"domain_scores_codex":[0.9994346,0.0001258755,0.00006172364,0.00008792005,0.0002359147,0.00005390342],"domain_scores_gemma":[0.9967782,0.002078688,0.0001655667,0.00008364298,0.0006393171,0.0002546698],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001047474,0.0000558868,0.0002743608,0.008617811,0.0001116154,0.0004350342,0.00005112103,0.0006577251,0.0015972,0.01357315,0.1084489,0.8660725],"study_design_scores_gemma":[0.00003893302,0.00004494903,0.0004957302,0.002879072,0.0001030199,0.001247677,0.00005101257,0.00024916,0.0004055125,0.009737761,0.9847122,0.00003483808],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006680543,0.9937536,0.0008704962,0.003209752,0.001140778,0.00000527443,0.00003719769,0.00002947188,0.0008865788],"genre_scores_gemma":[0.0005675791,0.9948623,0.0006889306,0.002173016,0.001191374,0.000008316129,0.00004349585,0.000005198858,0.0004598259],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004538914,"threshold_uncertainty_score":0.01518422,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2953369183","doi":"10.1038/s41436-019-0554-6","title":"Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders","year":2019,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":711,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; Hospital for Sick Children","keywords":"Intellectual disability; Autism spectrum disorder; Exome sequencing; Rett syndrome; Genetic testing; Autism; Neurodevelopmental disorder; Medicine; Global developmental delay; Diagnostic test; Psychiatry; Pediatrics; Genetics; Biology; Mutation; Internal medicine","authors":[{"name":"Siddharth Srivastava","is_ca":false},{"name":"Jamie Love‐Nichols","is_ca":false},{"name":"Kira A. Dies","is_ca":false},{"name":"David H. Ledbetter","is_ca":false},{"name":"Christa Lese Martin","is_ca":false},{"name":"Wendy K. Chung","is_ca":false},{"name":"Helen V. Firth","is_ca":false},{"name":"Thomas Frazier","is_ca":false},{"name":"Robin Hansen","is_ca":false},{"name":"Lisa M. Prock","is_ca":false},{"name":"Han G. Brunner","is_ca":false},{"name":"Ny Hoang","is_ca":true},{"name":"Stephen W. Scherer","is_ca":true},{"name":"Mustafa Şahin","is_ca":false},{"name":"David T. Miller","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1379369029473237,"gpt":0.3966323726930231,"spread":0.2586954697456995,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.07972369,0.002399564,0.01278833,0.008473941,0.0008307529,0.005009505,0.002869933,0.003523193,0.00495716],"category_scores_gemma":[0.1703297,0.001208699,0.03303888,0.007772541,0.0009423502,0.003585014,0.00257702,0.003353469,0.0006863709],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003428019,"about_ca_system_score_gemma":0.006559357,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005079984,"about_ca_topic_score_gemma":0.006372646,"domain_scores_codex":[0.9372236,0.03295382,0.01627616,0.006391047,0.006256412,0.0008989116],"domain_scores_gemma":[0.8308038,0.1380569,0.01516403,0.005778837,0.009152006,0.001044296],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.002169542,0.00002196312,0.01507647,0.2877845,0.6456835,0.0001941056,0.0001337092,0.001171034,0.0004508871,0.00116219,0.008059735,0.03809234],"study_design_scores_gemma":[0.00106127,0.0001791827,0.01317742,0.06536155,0.9026784,0.0002161521,0.00007214658,0.0008836554,0.0004785164,0.003298033,0.01252507,0.00006869192],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.005913941,0.9660065,0.01026093,0.007223198,0.001755052,0.001365611,0.005678105,0.0001675791,0.001629118],"genre_scores_gemma":[0.3165587,0.6084042,0.03398442,0.01828197,0.003498232,0.008284085,0.009083818,0.0004604858,0.001444108],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.07972369,"threshold_uncertainty_score":0.4216242,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1963557285","doi":"10.1038/ng.2646","title":"Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1","year":2013,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":694,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Biology; Cohort; Genetics; Phenotype; Mutation; Etiology; Epilepsy; Massive parallel sequencing; Gene; Medicine; DNA sequencing; Internal medicine; Neuroscience","authors":[{"name":"Gemma L. Carvill","is_ca":false},{"name":"Sinéad B. Heavin","is_ca":false},{"name":"Simone C. Yendle","is_ca":false},{"name":"Jacinta M. McMahon","is_ca":false},{"name":"Brian J. O’Roak","is_ca":false},{"name":"Joseph Cook","is_ca":false},{"name":"Adiba Khan","is_ca":false},{"name":"Michael O. Dorschner","is_ca":false},{"name":"Molly Weaver","is_ca":false},{"name":"Sophie Calvert","is_ca":false},{"name":"Stephen Malone","is_ca":false},{"name":"Geoff Wallace","is_ca":false},{"name":"Thorsten Stanley","is_ca":false},{"name":"Andrew Bleasel","is_ca":false},{"name":"Katherine B. Howell","is_ca":false},{"name":"Sara Kivity","is_ca":false},{"name":"Mark T. Mackay","is_ca":false},{"name":"Victoria Rodriguez‐Casero","is_ca":false},{"name":"Richard Webster","is_ca":false},{"name":"Amos D. Korczyn","is_ca":false},{"name":"Zaid Afawi","is_ca":false},{"name":"Nathanel Zelnick","is_ca":false},{"name":"Tally Lerman‐Sagie","is_ca":false},{"name":"Dorit Lev","is_ca":false},{"name":"Rikke S. Møller","is_ca":false},{"name":"Deepak Gill","is_ca":false},{"name":"Danielle M. Andrade","is_ca":true},{"name":"Jeremy L. Freeman","is_ca":false},{"name":"Lynette G. Sadleir","is_ca":false},{"name":"Jay Shendure","is_ca":false},{"name":"Samuel F. Berkovic","is_ca":false},{"name":"Ingrid E. Scheffer","is_ca":false},{"name":"Heather C. Mefford","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.004760474058205903,"gpt":0.2397276998483456,"spread":0.2349672257901397,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002176965,0.0005240411,0.0002702642,0.0007745203,0.0003157968,0.0003027387,0.0003274944,0.0006607207,0.001229297],"category_scores_gemma":[0.0005861343,0.000199151,0.0003995645,0.000296514,0.0002934358,0.0001368607,0.0003054928,0.000401169,0.0003657401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002261097,"about_ca_system_score_gemma":0.000152737,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006398524,"about_ca_topic_score_gemma":0.001634714,"domain_scores_codex":[0.9998415,0.00002219327,0.0000222877,0.00003702391,0.00005626221,0.00002070045],"domain_scores_gemma":[0.999772,0.0001190363,0.0000386564,0.00002246158,0.00001630698,0.00003158608],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005043994,0.00008167174,0.007220825,0.0000822798,0.000126548,0.01625929,0.0002114762,0.001138267,0.9650451,0.0006054101,0.0005710421,0.008153752],"study_design_scores_gemma":[0.0002061044,0.0004425906,0.1407806,0.00005169188,0.0004945837,0.08263447,0.0003630873,0.01148388,0.7529737,0.001096735,0.009411641,0.00006080815],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948779,0.0002866137,0.002872305,0.0001197426,0.00003921853,0.00003057458,0.000600635,0.00006972595,0.001103184],"genre_scores_gemma":[0.9971831,0.0001343044,0.001496569,0.00007845234,0.00001454302,0.00001457962,0.0005285766,0.0000277974,0.000522266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001229297,"threshold_uncertainty_score":0.004112363,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2583911935","doi":"10.1038/ng.3774","title":"CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer","year":2017,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":674,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Canada's Michael Smith Genome Sciences Centre","funders":"National Institute of General Medical Sciences; National Cancer Institute; National Institutes of Health; Generalitat de Catalunya; Ministerio de Economía y Competitividad; National Human Genome Research Institute; Bundesministerium für Bildung und Forschung; Centres de Recerca de Catalunya; Institute for Research in Biomedicine","keywords":"Crowdsourcing; Relevance (law); Interpretation (philosophy); Biology; Precision medicine; Open source; Annotation; Computational biology; Data science; Bioinformatics; Genetics; Computer science; World Wide Web; Political science; Software","authors":[{"name":"Malachi Griffith","is_ca":false},{"name":"Nicholas C. Spies","is_ca":false},{"name":"Kilannin Krysiak","is_ca":false},{"name":"Joshua F. McMichael","is_ca":false},{"name":"Adam Coffman","is_ca":false},{"name":"Arpad Danos","is_ca":false},{"name":"Benjamin J. Ainscough","is_ca":false},{"name":"Cody A. Ramirez","is_ca":false},{"name":"Damian Rieke","is_ca":false},{"name":"Lynzey Kujan","is_ca":false},{"name":"Erica K. Barnell","is_ca":false},{"name":"Alex H. Wagner","is_ca":false},{"name":"Zachary L. Skidmore","is_ca":false},{"name":"Amber Z. Wollam","is_ca":false},{"name":"Connor J. Liu","is_ca":false},{"name":"Martin Jones","is_ca":true},{"name":"Rachel L Bilski","is_ca":false},{"name":"Robert Lesurf","is_ca":false},{"name":"Yan-Yang Feng","is_ca":false},{"name":"Nakul M. Shah","is_ca":false},{"name":"Melika Bonakdar","is_ca":true},{"name":"Lee Trani","is_ca":false},{"name":"Matthew K. Matlock","is_ca":false},{"name":"Avinash Ramu","is_ca":false},{"name":"Katie M. Campbell","is_ca":false},{"name":"Gregory C. Spies","is_ca":false},{"name":"Aaron Graubert","is_ca":false},{"name":"Karthik Gangavarapu","is_ca":false},{"name":"James M. Eldred","is_ca":false},{"name":"David E. Larson","is_ca":false},{"name":"Jason Walker","is_ca":false},{"name":"Benjamin M. Good","is_ca":false},{"name":"Chunlei Wu","is_ca":false},{"name":"Andrew I. Su","is_ca":false},{"name":"Rodrigo Dienstmann","is_ca":false},{"name":"Adam A. Margolin","is_ca":false},{"name":"David Tamborero","is_ca":false},{"name":"Núria López-Bigas","is_ca":false},{"name":"Steven J.M. Jones","is_ca":true},{"name":"Ron Bose","is_ca":false},{"name":"David H. Spencer","is_ca":false},{"name":"Lukas D. Wartman","is_ca":false},{"name":"Richard K. Wilson","is_ca":false},{"name":"Elaine R. Mardis","is_ca":false},{"name":"Obi L. Griffith","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03310572565031396,"gpt":0.3930529426771761,"spread":0.3599472170268621,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01065932,0.001838543,0.002295993,0.0167943,0.004229791,0.005468255,0.006303704,0.005447507,0.05412276],"category_scores_gemma":[0.07494247,0.001160687,0.001962782,0.01262069,0.001527238,0.003897765,0.0117399,0.003101965,0.02940471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003368041,"about_ca_system_score_gemma":0.01390367,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03313057,"about_ca_topic_score_gemma":0.05898485,"domain_scores_codex":[0.9916655,0.00195169,0.001065373,0.001951201,0.002943302,0.0004228148],"domain_scores_gemma":[0.9649215,0.0148559,0.001726016,0.008177748,0.008141567,0.002177353],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004424551,0.0001404031,0.003073779,0.003648133,0.0003681806,0.0007083897,0.0008758777,0.005193033,0.002071989,0.01696919,0.8666467,0.09986189],"study_design_scores_gemma":[0.0002583454,0.00002889387,0.002242742,0.001717638,0.0001834508,0.0002467783,0.0004478231,0.0105959,0.001512143,0.04819717,0.9344346,0.0001344716],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"software","genre_scores_codex":[0.005178716,0.005595006,0.1598737,0.007093576,0.001642678,0.002638398,0.7058399,0.03412593,0.07801204],"genre_scores_gemma":[0.02971865,0.002663006,0.207279,0.003071097,0.0003859848,0.002520407,0.7367019,0.005944018,0.01171596],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.05412276,"threshold_uncertainty_score":0.1810586,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2124821411","doi":"10.1007/s00439-013-1331-2","title":"Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease","year":2013,"lang":"en","type":"review","venue":"Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":657,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University","funders":"Cardiff University; Wellcome Trust","keywords":"Penetrance; Biology; Human genetics; Genotype; Phenotype; Disease; Genetics; Molecular medicine; Genotype-phenotype distinction; Gene; Pathology","authors":[{"name":"D.N. Cooper","is_ca":false},{"name":"Michael Krawczak","is_ca":false},{"name":"Constantin Polychronakos","is_ca":true},{"name":"Chris Tyler‐Smith","is_ca":false},{"name":"Hildegard Kehrer‐Sawatzki","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05872054862471883,"gpt":0.3188291649754947,"spread":0.2601086163507759,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001931253,0.0009138119,0.002370598,0.001388859,0.0004191789,0.002230432,0.001228527,0.002464297,0.0006976178],"category_scores_gemma":[0.001966284,0.0003709348,0.0005223762,0.001683864,0.003113395,0.003309417,0.001082524,0.003935865,0.0006320905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001382489,"about_ca_system_score_gemma":0.001307158,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001747995,"about_ca_topic_score_gemma":0.001683389,"domain_scores_codex":[0.999317,0.0002532781,0.0001110996,0.0001315796,0.0001370099,0.00004994238],"domain_scores_gemma":[0.9985891,0.0009892341,0.0001702582,0.00004024576,0.000167214,0.00004391317],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000358002,0.0001056689,0.005106599,0.0253589,0.0005830959,0.007174874,0.002290115,0.002677108,0.01915233,0.1697177,0.03612915,0.7313464],"study_design_scores_gemma":[0.00002296481,0.0002051463,0.007450103,0.007243589,0.0004851387,0.01718048,0.001292458,0.001020087,0.003753809,0.1797934,0.7814208,0.000132012],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0008216927,0.9898911,0.003327064,0.003914656,0.0005705834,0.000004919022,0.00002229591,0.00002191076,0.001425718],"genre_scores_gemma":[0.006647297,0.9878856,0.002115319,0.001789435,0.0007739133,0.00001034856,0.00003799387,0.000008846572,0.0007311698],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002464297,"threshold_uncertainty_score":0.01021355,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2145695460","doi":"10.1016/j.jval.2015.05.008","title":"Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group","year":2015,"lang":"en","type":"review","venue":"Value in Health","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":604,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Canadian Agency for Drugs and Technologies in Health","funders":"","keywords":"Terminology; Orphan drug; Rare disease; Disease; Medicine; Descriptive statistics; Family medicine; Diversity (politics); Actuarial science; Demography; Statistics; Business; Pathology; Political science; Mathematics","authors":[{"name":"Trevor Richter","is_ca":true},{"name":"Sandra Nestler-Parr","is_ca":false},{"name":"R. Babela","is_ca":false},{"name":"Zeba Khan","is_ca":false},{"name":"Theresa Tesoro","is_ca":false},{"name":"Elizabeth Molsen","is_ca":false},{"name":"Dyfrig Hughes","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09712492353042428,"gpt":0.3431591321634604,"spread":0.2460342086330362,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005771487,0.001272074,0.004570589,0.018173,0.0003851481,0.002225676,0.001732529,0.001276208,0.004139354],"category_scores_gemma":[0.01527831,0.0005703878,0.004041727,0.01720812,0.0009383651,0.002379072,0.002458539,0.001476176,0.0006140124],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00194078,"about_ca_system_score_gemma":0.009374355,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005621387,"about_ca_topic_score_gemma":0.01327542,"domain_scores_codex":[0.9967096,0.0006966015,0.001448335,0.0003532708,0.0006629061,0.0001292485],"domain_scores_gemma":[0.9907714,0.005270512,0.002628661,0.0001444947,0.0009857172,0.0001991847],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0004608139,0.00003795893,0.003104469,0.5454339,0.004706364,0.0002251465,0.0003981391,0.0004539706,0.0006662431,0.002592544,0.04844396,0.3934766],"study_design_scores_gemma":[0.0004795905,0.0001738864,0.01575269,0.5459936,0.03386277,0.00213626,0.0006949846,0.000257487,0.0004337527,0.002782523,0.397281,0.0001514788],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003396455,0.9977436,0.0001495762,0.000434517,0.0001421067,0.00006154697,0.0008463658,0.000007677711,0.0002750327],"genre_scores_gemma":[0.002376198,0.9954684,0.0006647644,0.0006004968,0.0001005809,0.00009376831,0.0005921187,0.000005907475,0.0000977493],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.018173,"threshold_uncertainty_score":0.03052288,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3038072559","doi":"10.1038/s41586-020-2434-2","title":"Whole-genome sequencing of patients with rare diseases in a national health system","year":2020,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":582,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"Medical Research Council; Northwest Regional Development Agency; Rosetrees Trust; Diabetes UK; National Institute for Health and Care Research; Kidney Research UK; NIHR BioResource; Cancer Research UK; Bowel Cancer UK; Barts Charity; NHS Blood and Transplant; Sight Research UK; Scottish Government; British Heart Foundation; Wellcome Trust","keywords":"Genome; Whole genome sequencing; Computational biology; Biology; Genetics; Medicine; Gene","authors":[{"name":"Ernest Turro","is_ca":false},{"name":"Karyn Mégy","is_ca":false},{"name":"Olga Shamardina","is_ca":false},{"name":"Hana Lango Allen","is_ca":false},{"name":"Alba Sanchis‐Juan","is_ca":false},{"name":"Mattia Frontini","is_ca":false},{"name":"Chantal Thys","is_ca":false},{"name":"Jonathan Stephens","is_ca":false},{"name":"Rutendo Mapeta","is_ca":false},{"name":"Oliver S. Burren","is_ca":false},{"name":"Kate Downes","is_ca":false},{"name":"Matthias Haimel","is_ca":false},{"name":"Salih Tuna","is_ca":false},{"name":"Sri V. V. Deevi","is_ca":false},{"name":"Timothy J. Aitman","is_ca":false},{"name":"David Bennett","is_ca":false},{"name":"Keren Carss","is_ca":false},{"name":"Patrick F. Chinnery","is_ca":false},{"name":"Peter Dixon","is_ca":false},{"name":"Daniel P. Gale","is_ca":false},{"name":"Ania Koziell","is_ca":false},{"name":"Eamonn R. Maher","is_ca":false},{"name":"Hugh S. Markus","is_ca":false},{"name":"Nicholas W. Morrell","is_ca":false},{"name":"Andrew Mumford","is_ca":false},{"name":"Augusto Rendon","is_ca":false},{"name":"Sylvia Richardson","is_ca":false},{"name":"Irene Roberts","is_ca":false},{"name":"Noémi Roy","is_ca":false},{"name":"Hannah Stark","is_ca":false},{"name":"Rhea Tan","is_ca":false},{"name":"Hugh Watkins","is_ca":false},{"name":"Andrew R. Webster","is_ca":false},{"name":"Catherine Williamson","is_ca":false},{"name":"Stephen Abbs","is_ca":false},{"name":"Lara Abulhoul","is_ca":false},{"name":"Julian Adlard","is_ca":false},{"name":"Munaza Ahmed","is_ca":false},{"name":"Hana Alachkar","is_ca":false},{"name":"David Allsup","is_ca":false},{"name":"J. P. Almeida","is_ca":false},{"name":"Philip Ancliff","is_ca":false},{"name":"Richard Antrobus","is_ca":false},{"name":"Ruth Armstrong","is_ca":false},{"name":"Gavin Arno","is_ca":false},{"name":"Anthony Attwood","is_ca":false},{"name":"Paul Aurora","is_ca":false},{"name":"Christian Babbs","is_ca":false},{"name":"Chiara Bacchelli","is_ca":false},{"name":"Tamam Bakchoul","is_ca":false},{"name":"Siddharth Banka","is_ca":false},{"name":"Tadbir K. Bariana","is_ca":false},{"name":"Julian Barwell","is_ca":false},{"name":"Joana Batista","is_ca":false},{"name":"Helen Baxendale","is_ca":false},{"name":"Phil Beales","is_ca":false},{"name":"Agnieszka Bierżyńska","is_ca":false},{"name":"Tina Biss","is_ca":false},{"name":"Maria Bitner‐Glindzicz","is_ca":false},{"name":"Graeme C. Black","is_ca":false},{"name":"Marta Bleda","is_ca":false},{"name":"Iulia Blesneac","is_ca":false},{"name":"Detlef Böckenhauer","is_ca":false},{"name":"Harm Jan Bogaard","is_ca":false},{"name":"Christian Bourne","is_ca":false},{"name":"Sara Boyce","is_ca":false},{"name":"John R. Bradley","is_ca":false},{"name":"Eugene Bragin","is_ca":false},{"name":"Gerome Breen","is_ca":false},{"name":"Paul Brennan","is_ca":false},{"name":"Carole Brewer","is_ca":false},{"name":"Matthew A. Brown","is_ca":false},{"name":"Andrew C. Browning","is_ca":false},{"name":"Michael J. Browning","is_ca":false},{"name":"Rachel Buchan","is_ca":false},{"name":"Matthew Buckland","is_ca":false},{"name":"Teofila Bueser","is_ca":false},{"name":"Carmen Bugarin Diz","is_ca":false},{"name":"John Burn","is_ca":false},{"name":"Siobhan O. Burns","is_ca":false},{"name":"Nigel Burrows","is_ca":false},{"name":"Carolyn Campbell","is_ca":false},{"name":"Gerald Carr‐White","is_ca":false},{"name":"Ruth Casey","is_ca":false},{"name":"Jenny Chambers","is_ca":false},{"name":"John C. Chambers","is_ca":false},{"name":"Melanie Chan","is_ca":false},{"name":"Floria Cheng","is_ca":false},{"name":"Manali Chitre","is_ca":false},{"name":"Martin Christian","is_ca":false},{"name":"Colin Church","is_ca":false},{"name":"Jill Clayton‐Smith","is_ca":false},{"name":"Maureen Cleary","is_ca":false},{"name":"Naomi Clements Brod","is_ca":false},{"name":"Gerry Coghlan","is_ca":false},{"name":"Elizabeth Colby","is_ca":false},{"name":"Trevor Cole","is_ca":false},{"name":"Janine Collins","is_ca":false},{"name":"Peter W. Collins","is_ca":false},{"name":"Camilla Colombo","is_ca":false},{"name":"Cecilia Compton","is_ca":false},{"name":"Robin Condliffe","is_ca":false},{"name":"Stuart A. Cook","is_ca":false},{"name":"H. Terence Cook","is_ca":false},{"name":"Nichola Cooper","is_ca":false},{"name":"Paul A. Corris","is_ca":false},{"name":"Abigail Furnell","is_ca":false},{"name":"Fiona Cunningham","is_ca":false},{"name":"Nicola Curry","is_ca":false},{"name":"Antony J. Cutler","is_ca":false},{"name":"Matthew J. Daniels","is_ca":false},{"name":"Mehul Dattani","is_ca":false},{"name":"Louise C. Daugherty","is_ca":false},{"name":"John Davis","is_ca":false},{"name":"Anthony De Soyza","is_ca":false},{"name":"Timothy Dent","is_ca":false},{"name":"Charu Deshpande","is_ca":false},{"name":"Eleanor Dewhurst","is_ca":false},{"name":"Sofia Douzgou","is_ca":false},{"name":"Anna M. Drazyk","is_ca":false},{"name":"Elizabeth Drewe","is_ca":false},{"name":"Daniel Duarte","is_ca":false},{"name":"Tina Dutt","is_ca":false},{"name":"David Edgar","is_ca":false},{"name":"Karen L. Edwards","is_ca":false},{"name":"William Egner","is_ca":false},{"name":"Melanie N. Ekani","is_ca":false},{"name":"Perry Elliott","is_ca":false},{"name":"Wendy N. Erber","is_ca":false},{"name":"Marie Erwood","is_ca":false},{"name":"Maria C. Estiú","is_ca":false},{"name":"D. Gareth Evans","is_ca":false},{"name":"Gillian Evans","is_ca":false},{"name":"Tamara Everington","is_ca":false},{"name":"Mélanie Eyries","is_ca":false},{"name":"Hiva Fassihi","is_ca":false},{"name":"Rémi Favier","is_ca":false},{"name":"Jack Findhammer","is_ca":false},{"name":"Debra Fletcher","is_ca":false},{"name":"Frances Flinter","is_ca":false},{"name":"R. Andrés Floto","is_ca":false},{"name":"Tom Fowler","is_ca":false},{"name":"James Fox","is_ca":false},{"name":"Amy Frary","is_ca":false},{"name":"Courtney E. French","is_ca":false},{"name":"Kathleen Freson","is_ca":false},{"name":"Henning Gall","is_ca":false},{"name":"Vijeya Ganesan","is_ca":false},{"name":"Michael Gattens","is_ca":false},{"name":"Claire Geoghegan","is_ca":false},{"name":"Terence S. A. Gerighty","is_ca":false},{"name":"Ali G. Gharavi","is_ca":false},{"name":"Stefano Ghio","is_ca":false},{"name":"J. Simon R. Gibbs","is_ca":false},{"name":"Kate Gibson","is_ca":false},{"name":"Kimberly Gilmour","is_ca":false},{"name":"Barbara Girerd","is_ca":false},{"name":"Nicholas Gleadall","is_ca":false},{"name":"Sarah Goddard","is_ca":false},{"name":"David B. Goldstein","is_ca":false},{"name":"Keith Gomez","is_ca":false},{"name":"Pavels Gordins","is_ca":false},{"name":"David Gosal","is_ca":false},{"name":"Jodie Graham","is_ca":false},{"name":"Luigi Grassi","is_ca":false},{"name":"Lynn Greenhalgh","is_ca":false},{"name":"Andreas Greinacher","is_ca":false},{"name":"Paolo Gresele","is_ca":false},{"name":"Philip G. Griffiths","is_ca":false},{"name":"Sofia Grigoriadou","is_ca":false},{"name":"Russell Grocock","is_ca":false},{"name":"Detelina Grozeva","is_ca":false},{"name":"Mark Gurnell","is_ca":false},{"name":"Scott Hackett","is_ca":false},{"name":"Charaka Hadinnapola","is_ca":false},{"name":"William M. Hague","is_ca":false},{"name":"Rosie Hague","is_ca":false},{"name":"Matthew Hall","is_ca":false},{"name":"Helen Hanson","is_ca":false},{"name":"Eshika Haque","is_ca":false},{"name":"Kirsty Harkness","is_ca":false},{"name":"Andrew R. Harper","is_ca":false},{"name":"Claire L. Harris","is_ca":false},{"name":"Daniel P. Hart","is_ca":false},{"name":"Ahamad Hassan","is_ca":false},{"name":"Grant Hayman","is_ca":false},{"name":"Alex Henderson","is_ca":false},{"name":"Archana Herwadkar","is_ca":false},{"name":"Jonathan Hoffman","is_ca":false},{"name":"Simon Holden","is_ca":false},{"name":"Rita Horváth","is_ca":false},{"name":"Henry Houlden","is_ca":false},{"name":"Arjan C. Houweling","is_ca":false},{"name":"Luke Howard","is_ca":false},{"name":"Fengyuan Hu","is_ca":false},{"name":"Gavin Hudson","is_ca":false},{"name":"Joseph Hughes","is_ca":false},{"name":"Aarnoud Huissoon","is_ca":false},{"name":"Marc Humbert","is_ca":false},{"name":"Sarah Hunter","is_ca":false},{"name":"Matthew E. Hurles","is_ca":false},{"name":"Melita Irving","is_ca":false},{"name":"Louise Izatt","is_ca":false},{"name":"Sally Johnson","is_ca":false},{"name":"Stephen Jolles","is_ca":false},{"name":"Jennifer Jolley","is_ca":false},{"name":"Dragana Josifova","is_ca":false},{"name":"Neringa Jurkutė","is_ca":false},{"name":"Tim Karten","is_ca":false},{"name":"Johannes Karten","is_ca":false},{"name":"Mary Kasanicki","is_ca":false},{"name":"Hanadi Kazkaz","is_ca":false},{"name":"Rashid Kazmi","is_ca":false},{"name":"Peter Kelleher","is_ca":false},{"name":"Anne M. Kelly","is_ca":false},{"name":"Wilf Kelsall","is_ca":false},{"name":"Carly Kempster","is_ca":false},{"name":"David G. Kiely","is_ca":false},{"name":"Nathalie Kingston","is_ca":false},{"name":"Robert Klima","is_ca":false},{"name":"Nils Koelling","is_ca":false},{"name":"Myrto Kostadima","is_ca":false},{"name":"Gábor Kovács","is_ca":false},{"name":"Roman Kreuzhuber","is_ca":false},{"name":"Taco W. Kuijpers","is_ca":false},{"name":"Ajith Kumar","is_ca":false},{"name":"Dinakantha Kumararatne","is_ca":false},{"name":"Manju A. Kurian","is_ca":false},{"name":"Fiona Lalloo","is_ca":false},{"name":"Michele P. Lambert","is_ca":false},{"name":"Allan Lawrie","is_ca":false},{"name":"D. Mark Layton","is_ca":false},{"name":"Nicholas Lench","is_ca":false},{"name":"Claire Lentaigne","is_ca":false},{"name":"Tracy Lester","is_ca":false},{"name":"Rachel Linger","is_ca":false},{"name":"Hilary Longhurst","is_ca":false},{"name":"Lorena Lorenzo","is_ca":false},{"name":"Eleni Louka","is_ca":false},{"name":"Paul Lyons","is_ca":false},{"name":"Rajiv D. Machado","is_ca":false},{"name":"Robert V. MacKenzie Ross","is_ca":false},{"name":"Bella Madan","is_ca":false},{"name":"Jesmeen Maimaris","is_ca":false},{"name":"Samantha Malka","is_ca":false},{"name":"Sarah Mangles","is_ca":false},{"name":"Kevin J. Marchbank","is_ca":false},{"name":"Stephen D. Marks","is_ca":false},{"name":"Hanns–Ulrich Marschall","is_ca":false},{"name":"Andrew Marshall","is_ca":false},{"name":"Jennifer M. Martin","is_ca":false},{"name":"Mary Mathias","is_ca":false},{"name":"Emma Matthews","is_ca":false},{"name":"Heather Maxwell","is_ca":false},{"name":"Paul McAlinden","is_ca":false},{"name":"Mark I. McCarthy","is_ca":false},{"name":"Harriet McKinney","is_ca":false},{"name":"Aoife McMahon","is_ca":false},{"name":"Stuart Meacham","is_ca":false},{"name":"Adam J. Mead","is_ca":false},{"name":"Ignacio Medina Castello","is_ca":false},{"name":"Sarju Mehta","is_ca":false},{"name":"Michel Michaelides","is_ca":false},{"name":"Carolyn M. Millar","is_ca":false},{"name":"Shehla Mohammed","is_ca":false},{"name":"Shahin Moledina","is_ca":false},{"name":"David Montani","is_ca":false},{"name":"Anthony T. Moore","is_ca":false},{"name":"Monika Mozere","is_ca":false},{"name":"Keith W. Muir","is_ca":false},{"name":"Andrea H. Németh","is_ca":false},{"name":"William G. Newman","is_ca":false},{"name":"Michael Newnham","is_ca":false},{"name":"Sadia Noorani","is_ca":false},{"name":"Paquita Nurden","is_ca":false},{"name":"Jennifer O’Sullivan","is_ca":false},{"name":"Samya Obaji","is_ca":false},{"name":"Chris A. Odhams","is_ca":false},{"name":"Steven Okoli","is_ca":false},{"name":"Andrea Olschewski","is_ca":false},{"name":"Horst Olschewski","is_ca":false},{"name":"Kai Ren Ong","is_ca":false},{"name":"S. Oram","is_ca":false},{"name":"Willem H. Ouwehand","is_ca":false},{"name":"Claire Palles","is_ca":false},{"name":"Sofia Papadia","is_ca":false},{"name":"Soo‐Mi Park","is_ca":false},{"name":"David Parry","is_ca":false},{"name":"Smita Y. Patel","is_ca":false},{"name":"Joan Paterson","is_ca":false},{"name":"Andrew J. Peacock","is_ca":false},{"name":"Simon H. S. Pearce","is_ca":false},{"name":"John F. Peden","is_ca":false},{"name":"Kathelijne Peerlinck","is_ca":false},{"name":"Christopher J. Penkett","is_ca":false},{"name":"Joanna Pepke‐Żaba","is_ca":false},{"name":"R. Petersen","is_ca":false},{"name":"Clarissa Pilkington","is_ca":false},{"name":"Kenneth Poole","is_ca":false},{"name":"Radhika Prathalingam","is_ca":false},{"name":"Bethan Psaila","is_ca":false},{"name":"Angela Pyle","is_ca":false},{"name":"Richard Quinton","is_ca":false},{"name":"Shamima Rahman","is_ca":false},{"name":"Anupama Rao","is_ca":false},{"name":"F. Lucy Raymond","is_ca":false},{"name":"Paula Rayner-Matthews","is_ca":false},{"name":"Christine A. Rees","is_ca":false},{"name":"Tara Renton","is_ca":false},{"name":"Christopher J. Rhodes","is_ca":false},{"name":"Andrew S.C. Rice","is_ca":false},{"name":"Alex Richter","is_ca":false},{"name":"Leema Robert","is_ca":false},{"name":"Anthony S. Rogers","is_ca":false},{"name":"Sarah J. Rose","is_ca":false},{"name":"Robert Ross‐Russell","is_ca":false},{"name":"Catherine Roughley","is_ca":false},{"name":"Deborah Ruddy","is_ca":false},{"name":"Omid Sadeghi‐Alavijeh","is_ca":false},{"name":"Nilesh J. Samani","is_ca":false},{"name":"Crina Samarghitean","is_ca":false},{"name":"Ravishankar Sargur","is_ca":false},{"name":"Robert N. Sarkany","is_ca":false},{"name":"Simon C. Satchell","is_ca":false},{"name":"Sinisa Savic","is_ca":false},{"name":"John A. Sayer","is_ca":false},{"name":"Genevieve Sayer","is_ca":false},{"name":"Laura Scelsi","is_ca":false},{"name":"Andrew M. Schaefer","is_ca":false},{"name":"Sol Schulman","is_ca":false},{"name":"Richard H. Scott","is_ca":false},{"name":"Marie Scully","is_ca":false},{"name":"Claire Searle","is_ca":false},{"name":"Werner Seeger","is_ca":false},{"name":"Arjune Sen","is_ca":false},{"name":"William A. Sewell","is_ca":false},{"name":"Denis Seyres","is_ca":false},{"name":"Neil V. Shah","is_ca":false},{"name":"Susan Shapiro","is_ca":false},{"name":"Adam Shaw","is_ca":false},{"name":"Patrick Short","is_ca":false},{"name":"Keith Sibson","is_ca":false},{"name":"Lucy Side","is_ca":false},{"name":"Ilenia Simeoni","is_ca":false},{"name":"Michael A. Simpson","is_ca":false},{"name":"Matthew C. Sims","is_ca":false},{"name":"Suthesh Sivapalaratnam","is_ca":false},{"name":"Damian Smedley","is_ca":false},{"name":"Katherine R. Smith","is_ca":false},{"name":"Katie Snape","is_ca":false},{"name":"Nicole Soranzo","is_ca":false},{"name":"Florent Soubrier","is_ca":false},{"name":"Laura Southgate","is_ca":false},{"name":"Olivera Spasić-Bošković","is_ca":false},{"name":"Simon Staines","is_ca":true},{"name":"Emily Staples","is_ca":false},{"name":"Charles A. Steward","is_ca":false},{"name":"Kathleen Stirrups","is_ca":false},{"name":"Alexander Stuckey","is_ca":false},{"name":"Jay Suntharalingam","is_ca":false},{"name":"Emilia M. Swietlik","is_ca":false},{"name":"Petros Syrris","is_ca":false},{"name":"Robert C. Tait","is_ca":false},{"name":"Kate Talks","is_ca":false},{"name":"Katie Tate","is_ca":false},{"name":"John Taylor","is_ca":false},{"name":"Jenny C. Taylor","is_ca":false},{"name":"James E. Thaventhiran","is_ca":false},{"name":"Ellen Thomas","is_ca":false},{"name":"David Thomas","is_ca":false},{"name":"Moira Thomas","is_ca":false},{"name":"Patrick Thomas","is_ca":false},{"name":"Kate Thomson","is_ca":false},{"name":"Glen Threadgold","is_ca":false},{"name":"Tobias Tilly","is_ca":false},{"name":"Marc Tischkowitz","is_ca":false},{"name":"Catherine Titterton","is_ca":false},{"name":"John A. Todd","is_ca":false},{"name":"Cheng‐Hock Toh","is_ca":false},{"name":"Bas Tolhuis","is_ca":false},{"name":"Ian Tomlinson","is_ca":false},{"name":"Mark Toshner","is_ca":false},{"name":"Matthew Traylor","is_ca":false},{"name":"Carmen Treacy","is_ca":false},{"name":"Paul Treadaway","is_ca":false},{"name":"Richard C. Trembath","is_ca":false},{"name":"Wojciech Turek","is_ca":false},{"name":"Philip Twiss","is_ca":false},{"name":"Tom Vale","is_ca":false},{"name":"Chris Van Geet","is_ca":false},{"name":"Natalie R. van Zuydam","is_ca":false},{"name":"Maarten Vandekuilen","is_ca":false},{"name":"Anthony M. Vandersteen","is_ca":true},{"name":"Marta Vazquez‐Lopez","is_ca":false},{"name":"Julie von Ziegenweidt","is_ca":false},{"name":"Anton Vonk Noordegraaf","is_ca":false},{"name":"Annette Wagner","is_ca":false},{"name":"Quinten Waisfisz","is_ca":false},{"name":"Suellen M. Walker","is_ca":false},{"name":"Neil Walker","is_ca":false},{"name":"Klaudia Walter","is_ca":false},{"name":"James S. Ware","is_ca":false},{"name":"C. Ian F. Watt","is_ca":false},{"name":"Lucy R. Wedderburn","is_ca":false},{"name":"Wei Wei","is_ca":false},{"name":"Steven Welch","is_ca":false},{"name":"Julie Wessels","is_ca":false},{"name":"Sarah K. Westbury","is_ca":false},{"name":"John‐Paul Westwood","is_ca":false},{"name":"John Wharton","is_ca":false},{"name":"Deborah Whitehorn","is_ca":false},{"name":"Andrew O.M. Wilkie","is_ca":false},{"name":"Brian T. Wilson","is_ca":false},{"name":"Edwin Wong","is_ca":false},{"name":"Nicholas Wood","is_ca":false},{"name":"Yvette Wood","is_ca":false},{"name":"C. Geoffrey Woods","is_ca":false},{"name":"Emma R. Woodward","is_ca":false},{"name":"Stephen J. Wort","is_ca":false},{"name":"Austen Worth","is_ca":false},{"name":"Michael Wright","is_ca":false},{"name":"Katherine Yates","is_ca":false},{"name":"Patrick Yong","is_ca":false},{"name":"Timothy M. Young","is_ca":false},{"name":"Ping Yu","is_ca":false},{"name":"Patrick Yu‐Wai‐Man","is_ca":false},{"name":"Eliska Zlamalova","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.005645935829738707,"gpt":0.2206701618429434,"spread":0.2150242260132047,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004257882,0.000175279,0.0003179832,0.0008723763,0.0007379755,0.0006425964,0.0003663262,0.0004924174,0.00161354],"category_scores_gemma":[0.001798449,0.00019468,0.0002157959,0.001623659,0.0002224206,0.0002239775,0.0005992885,0.0004794327,0.0002199521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007509352,"about_ca_system_score_gemma":0.001562455,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0445489,"about_ca_topic_score_gemma":0.0627904,"domain_scores_codex":[0.9994506,0.0001204267,0.00005398052,0.0001813274,0.00009178647,0.0001019416],"domain_scores_gemma":[0.9988692,0.0003468679,0.0002334191,0.00008623083,0.0002548406,0.0002094042],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00027802,0.00005973362,0.967188,0.00006608781,0.0001255506,0.001050281,0.0007359107,0.0005697851,0.00837088,0.0004670046,0.008336985,0.01275177],"study_design_scores_gemma":[0.00003212086,0.00005225662,0.9909846,0.0000454519,0.00008960246,0.001059636,0.0006820624,0.0008667433,0.001180534,0.0003053475,0.004691662,0.000009847284],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9848576,0.0004089214,0.0004597817,0.001101617,0.00001693832,0.00001961306,0.01158888,0.00002222413,0.001524547],"genre_scores_gemma":[0.9858739,0.0004391193,0.001584693,0.001142922,0.00004414671,0.00004382614,0.009966082,0.00002425476,0.0008809551],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0445489,"threshold_uncertainty_score":0.08857918,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2745065704","doi":"10.1038/gim.2017.119","title":"Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test","year":2017,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":565,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"St Joseph's Health Centre; University of Alberta; Public Health Ontario; Ted Rogers Centre for Heart Research; William Osler Health System; Ontario Genomics; Institute for Clinical Evaluative Sciences; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Toronto; British Columbia Children's Hospital; SickKids Foundation","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Genome Canada; GlaxoSmithKline","keywords":"Exome sequencing; Whole genome sequencing; Genetic testing; Medicine; DNA sequencing; Exome; Genetics; Computational biology; Medical diagnosis; Bioinformatics; Gene; Genome; Biology; Phenotype; Internal medicine; Pathology","authors":[{"name":"Anath C. Lionel","is_ca":true},{"name":"Gregory Costain","is_ca":true},{"name":"Nasim Monfared","is_ca":true},{"name":"Susan Walker","is_ca":true},{"name":"Miriam S. Reuter","is_ca":true},{"name":"S. Mohsen Hosseini","is_ca":true},{"name":"Bhooma Thiruvahindrapuram","is_ca":true},{"name":"Daniele Merico","is_ca":true},{"name":"Rebekah Jobling","is_ca":true},{"name":"Thomas Nalpathamkalam","is_ca":true},{"name":"Giovanna Pellecchia","is_ca":true},{"name":"Wilson W. L. Sung","is_ca":true},{"name":"Zhuozhi Wang","is_ca":true},{"name":"Peter Bikangaga","is_ca":true},{"name":"Cyrus Boelman","is_ca":true},{"name":"Melissa T. Carter","is_ca":true},{"name":"Dawn Cordeiro","is_ca":true},{"name":"Cheryl Cytrynbaum","is_ca":true},{"name":"Sharon Dell","is_ca":true},{"name":"Priya Dhir","is_ca":true},{"name":"James J. Dowling","is_ca":true},{"name":"Elise Héon","is_ca":true},{"name":"Stacy Hewson","is_ca":true},{"name":"Linda T. Hiraki","is_ca":true},{"name":"Michal Inbar‐Feigenberg","is_ca":true},{"name":"Regan Klatt","is_ca":true},{"name":"Jonathan B. Kronick","is_ca":true},{"name":"Ronald M. Laxer","is_ca":true},{"name":"Christoph Licht","is_ca":true},{"name":"H. Robson MacDonald","is_ca":true},{"name":"Saadet Mercimek‐Andrews","is_ca":true},{"name":"Roberto Mendoza‐Londono","is_ca":true},{"name":"Tino D. Piscione","is_ca":true},{"name":"Rayfel Schneider","is_ca":true},{"name":"Andreas Schulze","is_ca":true},{"name":"Earl D. Silverman","is_ca":true},{"name":"Komudi Siriwardena","is_ca":true},{"name":"O. Carter Snead","is_ca":true},{"name":"Neal Sondheimer","is_ca":true},{"name":"Joanne Sutherland","is_ca":true},{"name":"Ajoy Vincent","is_ca":true},{"name":"Jonathan D. Wasserman","is_ca":true},{"name":"Rosanna Weksberg","is_ca":true},{"name":"Cheryl Shuman","is_ca":true},{"name":"Chris Carew","is_ca":true},{"name":"Michael J. Szego","is_ca":true},{"name":"Robin Z. Hayeems","is_ca":true},{"name":"Raveen Basran","is_ca":true},{"name":"Dimitri J. Stavropoulos","is_ca":true},{"name":"Peter N. Ray","is_ca":true},{"name":"Sarah Bowdin","is_ca":true},{"name":"M. Stephen Meyn","is_ca":true},{"name":"Ronald D. Cohn","is_ca":true},{"name":"Stephen W. Scherer","is_ca":true},{"name":"Christian R. Marshall","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0207446438916439,"gpt":0.2604915949514327,"spread":0.2397469510597888,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01079328,0.0009204987,0.001232505,0.002179732,0.0002818972,0.001360423,0.0007667862,0.000922482,0.00409786],"category_scores_gemma":[0.02636022,0.0003054517,0.0006397722,0.001275622,0.0008646078,0.001217093,0.001365529,0.0007626967,0.001228941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006349878,"about_ca_system_score_gemma":0.0003563988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001282735,"about_ca_topic_score_gemma":0.001268828,"domain_scores_codex":[0.9934077,0.003084931,0.0004149983,0.001507854,0.001229987,0.0003546449],"domain_scores_gemma":[0.974874,0.01736988,0.00220901,0.002507279,0.002495999,0.0005438438],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009821125,0.0001175141,0.7508724,0.0004881375,0.0003814491,0.000652553,0.0002194036,0.002100658,0.01656158,0.001951813,0.004708526,0.2209639],"study_design_scores_gemma":[0.00008018014,0.001401094,0.9095545,0.0003925816,0.0005111998,0.01399967,0.0002737978,0.01706105,0.03051657,0.005869434,0.02026001,0.00007992645],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7866135,0.03744338,0.1462841,0.006447136,0.000626089,0.0002318656,0.005590274,0.002505403,0.01425824],"genre_scores_gemma":[0.9643814,0.002747045,0.02923609,0.0008799686,0.0003615442,0.00007361169,0.001432045,0.000118469,0.000769754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01079328,"threshold_uncertainty_score":0.05708104,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3161833585","doi":"10.1038/s41436-021-01172-3","title":"ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":562,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"National Institutes of Health","keywords":"Medical genetics; Exome sequencing; Statement (logic); Genomics; Exome; Medicine; Family medicine; Genome; Genetics; Biology; Mutation; Political science","authors":[{"name":"David T. Miller","is_ca":false},{"name":"Kristy Lee","is_ca":false},{"name":"Wendy K. Chung","is_ca":false},{"name":"Allan Gordon","is_ca":false},{"name":"Gail E. Herman","is_ca":false},{"name":"Teri E. Klein","is_ca":false},{"name":"Douglas R. Stewart","is_ca":false},{"name":"Laura M. Amendola","is_ca":false},{"name":"Kathy Adelman","is_ca":false},{"name":"Sherri J. Bale","is_ca":false},{"name":"Michael H. Gollob","is_ca":true},{"name":"Steven M. Harrison","is_ca":false},{"name":"Ray E. Hershberger","is_ca":false},{"name":"Kent D. McKelvey","is_ca":false},{"name":"C. Sue Richards","is_ca":false},{"name":"Christopher N. Vlangos","is_ca":false},{"name":"Michael S. Watson","is_ca":false},{"name":"Christa Lese Martin","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04381757001942078,"gpt":0.3745103097250284,"spread":0.3306927397056076,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.04671478,0.00158184,0.003420841,0.01503151,0.004565685,0.008700253,0.004697935,0.02048122,0.2742718],"category_scores_gemma":[0.1630055,0.002357795,0.0027101,0.01611271,0.002593335,0.004642657,0.006061244,0.009566395,0.2169665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003440886,"about_ca_system_score_gemma":0.02374431,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02194136,"about_ca_topic_score_gemma":0.02838489,"domain_scores_codex":[0.9661788,0.01049454,0.007610528,0.001998493,0.01011633,0.003601297],"domain_scores_gemma":[0.7497709,0.1132131,0.02399555,0.02433221,0.07107545,0.01761289],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002419431,0.00004655822,0.0008902252,0.0005679661,0.00002223285,0.0001119884,0.00009248759,0.0001222029,0.0003980544,0.003775376,0.9786878,0.01504325],"study_design_scores_gemma":[0.0004781281,0.0001162678,0.0060742,0.002586027,0.00006796177,0.0004937394,0.0001914486,0.0006072074,0.001401106,0.01185639,0.9759616,0.000165831],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.003373574,0.002489405,0.05260327,0.1222193,0.02071891,0.008711784,0.5358141,0.03131133,0.2227584],"genre_scores_gemma":[0.01566263,0.004123973,0.1020476,0.2084875,0.01471133,0.02022285,0.4519365,0.01432929,0.1684784],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.9532852,"threshold_uncertainty_score":0.9175304,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2904891280","doi":"10.1038/s41467-018-07524-z","title":"Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies","year":2018,"lang":"en","type":"article","venue":"Nature Communications","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":513,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Statens Serum Institut; National Center for Advancing Translational Sciences; Medical Research Council; National Institutes of Health; Royal Melbourne Hospital Neuroscience Foundation; Chinese University of Hong Kong; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Universitair Medisch Centrum Utrecht; Science Foundation Ireland; Helmholtz Zentrum München; European Regional Development Fund; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; European Commission; Nationwide Children's Hospital; Danish Cancer Society Research Center; Wellcome Trust; Université du Luxembourg; National Health and Medical Research Council; Children's Hospital of Philadelphia; Deutsche Forschungsgemeinschaft; European Science Foundation; Epilepsy Society; University of Dundee; GlaxoSmithKline","keywords":"Epilepsy; Biology; Epigenetics; Genome-wide association study; Genetics; Gene; Genome; Computational biology; Heritability; SNP; Genetic association; Evolutionary biology; Bioinformatics; Single-nucleotide polymorphism; Neuroscience; Genotype","authors":[{"name":"Bassel Abou‐Khalil","is_ca":false},{"name":"Pauls Auce","is_ca":false},{"name":"Andreja Avberšek","is_ca":false},{"name":"Melanie Bahlo","is_ca":false},{"name":"David J. Balding","is_ca":false},{"name":"Thomas Bast","is_ca":false},{"name":"Larry Baum","is_ca":false},{"name":"Albert J. Becker","is_ca":false},{"name":"Felicitas Becker","is_ca":false},{"name":"Bianca Berghuis","is_ca":false},{"name":"Samuel F. Berkovic","is_ca":false},{"name":"Katja Boysen","is_ca":false},{"name":"Jonathan P. Bradfield","is_ca":false},{"name":"Lawrence C. Brody","is_ca":false},{"name":"Russell J. Buono","is_ca":false},{"name":"Ellen Campbell","is_ca":false},{"name":"Gregory D. Cascino","is_ca":false},{"name":"Claudia B. Catarino","is_ca":false},{"name":"Gianpiero L. Cavalleri","is_ca":false},{"name":"Stacey S. Cherny","is_ca":false},{"name":"Krishna Chinthapalli","is_ca":false},{"name":"Alison J. Coffey","is_ca":false},{"name":"Alastair Compston","is_ca":false},{"name":"Antonietta Coppola","is_ca":false},{"name":"Patrick Cossette","is_ca":true},{"name":"John Craig","is_ca":false},{"name":"Gerrit‐Jan de Haan","is_ca":false},{"name":"Peter De Jonghe","is_ca":false},{"name":"Carolien G. F. de Kovel","is_ca":false},{"name":"Norman Delanty","is_ca":false},{"name":"Chantal Depondt","is_ca":false},{"name":"Orrin Devinsky","is_ca":false},{"name":"Dennis Dlugos","is_ca":false},{"name":"Colin P. Doherty","is_ca":false},{"name":"Christian E. Elger","is_ca":false},{"name":"Johan G. Eriksson","is_ca":false},{"name":"Thomas N. Ferraro","is_ca":false},{"name":"Martha Feucht","is_ca":false},{"name":"Ben Francis","is_ca":false},{"name":"André Franke","is_ca":false},{"name":"Jacqueline A. French","is_ca":false},{"name":"Saskia Freytag","is_ca":false},{"name":"Verena Gaus","is_ca":false},{"name":"Eric B. Geller","is_ca":false},{"name":"Christian Gieger","is_ca":false},{"name":"Tracy A. Glauser","is_ca":false},{"name":"Simon Glynn","is_ca":false},{"name":"David B. Goldstein","is_ca":false},{"name":"Hongsheng Gui","is_ca":false},{"name":"Youling Guo","is_ca":false},{"name":"Kevin F. Haas","is_ca":false},{"name":"Håkon Håkonarson","is_ca":false},{"name":"Kerstin Hallmann","is_ca":false},{"name":"Sheryl R. Haut","is_ca":false},{"name":"Erin L. Heinzen","is_ca":false},{"name":"Ingo Helbig","is_ca":false},{"name":"Christian Hengsbach","is_ca":false},{"name":"Helle Hjalgrim","is_ca":false},{"name":"Michele Iacomino","is_ca":false},{"name":"Andrés Ingason","is_ca":false},{"name":"Jennifer Jamnadas-Khoda","is_ca":false},{"name":"Michael R. Johnson","is_ca":false},{"name":"Reetta Kälviäinen","is_ca":false},{"name":"Anne-Mari Kantanen","is_ca":false},{"name":"Dalia Kasperavičiūtė","is_ca":false},{"name":"Dorothée Kasteleijn‐Nolst Trenité","is_ca":false},{"name":"Heidi E. Kirsch","is_ca":false},{"name":"Robert C. Knowlton","is_ca":false},{"name":"Bobby P.C. Koeleman","is_ca":false},{"name":"Roland Krause","is_ca":false},{"name":"Martin Krenn","is_ca":false},{"name":"Wolfram S. Kunz","is_ca":false},{"name":"Ruben Kuzniecky","is_ca":false},{"name":"Patrick Kwan","is_ca":false},{"name":"Dennis Lal","is_ca":false},{"name":"YL Lau","is_ca":false},{"name":"Anna‐Elina Lehesjoki","is_ca":false},{"name":"Holger Lerche","is_ca":false},{"name":"Costin Leu","is_ca":false},{"name":"Wolfgang Lieb","is_ca":false},{"name":"Dick Lindhout","is_ca":false},{"name":"Warren Lo","is_ca":false},{"name":"Íscia Lopes‐Cendes","is_ca":false},{"name":"Daniel H. Lowenstein","is_ca":false},{"name":"Alberto Malovini","is_ca":false},{"name":"Anthony G Marson","is_ca":false},{"name":"Mark McCormack","is_ca":false},{"name":"James L. Mills","is_ca":false},{"name":"Nasir Mirza","is_ca":false},{"name":"Martina Moerzinger","is_ca":false},{"name":"Rikke S. Møller","is_ca":false},{"name":"Anne M. Molloy","is_ca":false},{"name":"Hiltrud Muhle","is_ca":false},{"name":"Mark R. Newton","is_ca":false},{"name":"Ping-Wing Ng","is_ca":false},{"name":"Markus M. Nöthen","is_ca":false},{"name":"Peter Nürnberg","is_ca":false},{"name":"Terence J. O’Brien","is_ca":false},{"name":"Karen Oliver","is_ca":false},{"name":"Aarno Palotie","is_ca":false},{"name":"Faith Pangilinan","is_ca":false},{"name":"Sarah Peter","is_ca":false},{"name":"Slavé Petrovski","is_ca":false},{"name":"Annapurna Poduri","is_ca":false},{"name":"Michael Privitera","is_ca":false},{"name":"Rodney A. Radtke","is_ca":false},{"name":"Sarah Rau","is_ca":false},{"name":"Philipp S. Reif","is_ca":false},{"name":"Eva M. Reinthaler","is_ca":false},{"name":"Felix Rosenow","is_ca":false},{"name":"Josemir W. Sander","is_ca":false},{"name":"Thomas Sander","is_ca":false},{"name":"Theresa Scattergood","is_ca":false},{"name":"Steven C. Schachter","is_ca":false},{"name":"Christoph J. Schankin","is_ca":false},{"name":"Ingrid E. Scheffer","is_ca":false},{"name":"Bettina Schmitz","is_ca":false},{"name":"Susanne Schoch","is_ca":false},{"name":"Pak C. Sham","is_ca":false},{"name":"Jerry J. Shih","is_ca":false},{"name":"Graeme J. Sills","is_ca":false},{"name":"Sanjay M. Sisodiya","is_ca":false},{"name":"Lisa Slattery","is_ca":false},{"name":"Alexander C.W. Smith","is_ca":false},{"name":"David F. Smith","is_ca":false},{"name":"Michael C. Smith","is_ca":false},{"name":"Phil E M Smith","is_ca":false},{"name":"Anja C. M. Sonsma","is_ca":false},{"name":"Doug Speed","is_ca":false},{"name":"Michael R. Sperling","is_ca":false},{"name":"Bernhard J. Steinhoff","is_ca":false},{"name":"Ulrich Stephani","is_ca":false},{"name":"Remi Stevelink","is_ca":false},{"name":"Konstantin Strauch","is_ca":false},{"name":"Pasquale Striano","is_ca":false},{"name":"Hans Stroink","is_ca":false},{"name":"Rainer Surges","is_ca":false},{"name":"K. Meng Tan","is_ca":false},{"name":"Liu Lin Thio","is_ca":false},{"name":"G. Neil Thomas","is_ca":false},{"name":"Marian Todaro","is_ca":false},{"name":"Rossana Tozzi","is_ca":false},{"name":"Maria Stella Vari","is_ca":false},{"name":"Eileen P.G. Vining","is_ca":false},{"name":"Frank Visscher","is_ca":false},{"name":"Sarah von Spiczak","is_ca":false},{"name":"Yvonne Weber","is_ca":false},{"name":"Zhi Wei","is_ca":false},{"name":"Judith Weisenberg","is_ca":false},{"name":"Christopher D. Whelan","is_ca":false},{"name":"Peter Widdess‐Walsh","is_ca":false},{"name":"Markus Wolff","is_ca":false},{"name":"Stefan Wolking","is_ca":false},{"name":"Wanling Yang","is_ca":false},{"name":"Federico Zara","is_ca":false},{"name":"Fritz Zimprich","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01971046936835096,"gpt":0.2832435610175162,"spread":0.2635330916491653,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009858048,0.0005767788,0.0007911413,0.001539974,0.0004590127,0.0008222383,0.0004520943,0.0004354896,0.002999402],"category_scores_gemma":[0.002663118,0.0002721567,0.00108758,0.002417179,0.0002895976,0.0002284509,0.001182665,0.0004600558,0.0004217305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001728835,"about_ca_system_score_gemma":0.0002719736,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001314353,"about_ca_topic_score_gemma":0.002891388,"domain_scores_codex":[0.9992163,0.000266589,0.00007446378,0.0002559562,0.0001141025,0.00007255759],"domain_scores_gemma":[0.9988382,0.0006495409,0.0002052994,0.0001656633,0.0000495622,0.0000918076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.003196615,0.0001094995,0.6799431,0.001224658,0.008079103,0.007511547,0.001214496,0.01145716,0.1745609,0.003423231,0.00439753,0.1048821],"study_design_scores_gemma":[0.00009008812,0.0001398824,0.9730601,0.00007156435,0.001341734,0.002327331,0.0002280385,0.0048712,0.006760103,0.002323087,0.008753398,0.00003345235],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9771927,0.002069735,0.01204154,0.0002704674,0.00002177311,0.00003120377,0.00696911,0.0002298408,0.001173613],"genre_scores_gemma":[0.9800721,0.0008158007,0.009889728,0.00009984514,0.00001279618,0.00003321631,0.008619799,0.0000712974,0.0003852959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002999402,"threshold_uncertainty_score":0.01003397,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2099248872","doi":"10.1038/nature12825","title":"Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease","year":2013,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":476,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto; Occupational Cancer Research Centre","funders":"National Institute on Aging; Medical Research Council; U.S. Public Health Service; Genentech; Canadian Institutes of Health Research; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Wellcome Trust; Pfizer; National Institute on Drug Abuse; BrightFocus Foundation; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Disease; Gene; Alzheimer's disease; Genetics; Biology; Medicine; Computational biology; Bioinformatics; Internal medicine","authors":[{"name":"Carlos Cruchaga","is_ca":false},{"name":"Celeste M. Karch","is_ca":false},{"name":"Sheng Chih Jin","is_ca":false},{"name":"Bruno A. Benítez","is_ca":false},{"name":"Yefei Cai","is_ca":false},{"name":"Rita Guerreiro","is_ca":false},{"name":"Oscar Harari","is_ca":false},{"name":"Joanne Norton","is_ca":false},{"name":"John Budde","is_ca":false},{"name":"Sarah Bertelsen","is_ca":false},{"name":"Amanda T. Jeng","is_ca":false},{"name":"Breanna Cooper","is_ca":false},{"name":"Tara Skorupa","is_ca":false},{"name":"David Carrell","is_ca":false},{"name":"Denise Levitch","is_ca":false},{"name":"Simon Hsu","is_ca":false},{"name":"Jiyoon Choi","is_ca":false},{"name":"Mina Ryten","is_ca":false},{"name":"John Hardy","is_ca":false},{"name":"Daniah Trabzuni","is_ca":false},{"name":"Michael E. Weale","is_ca":false},{"name":"Adaikalavan Ramasamy","is_ca":false},{"name":"Colin Smith","is_ca":false},{"name":"Celeste Sassi","is_ca":false},{"name":"José Brás","is_ca":false},{"name":"J. Raphael Gibbs","is_ca":false},{"name":"Dena G. Hernandez","is_ca":false},{"name":"Michelle K. Lupton","is_ca":false},{"name":"John Powell","is_ca":false},{"name":"Paola Forabosco","is_ca":false},{"name":"Perry G. Ridge","is_ca":false},{"name":"Christopher Corcoran","is_ca":false},{"name":"JoAnn T. Tschanz","is_ca":false},{"name":"Maria C. Norton","is_ca":false},{"name":"Ronald G. Munger","is_ca":false},{"name":"Cameron Schmutz","is_ca":false},{"name":"Maegan Leary","is_ca":false},{"name":"F. Yesim Demirci","is_ca":false},{"name":"Mikhil Bamne","is_ca":false},{"name":"Xingbin Wang","is_ca":false},{"name":"Oscar L. López","is_ca":false},{"name":"Mary Ganguli","is_ca":false},{"name":"Christopher Medway","is_ca":false},{"name":"James Turton","is_ca":false},{"name":"Jenny Lord","is_ca":false},{"name":"Anne Braae","is_ca":false},{"name":"Imelda Barber","is_ca":false},{"name":"Kristelle Brown","is_ca":false},{"name":"Peter Passmore","is_ca":false},{"name":"David Craig","is_ca":false},{"name":"Janet Johnston","is_ca":false},{"name":"Bernadette McGuinness","is_ca":false},{"name":"Stephen Todd","is_ca":false},{"name":"Reinhard Heun","is_ca":false},{"name":"Heike Kölsch","is_ca":false},{"name":"Patrick G. Kehoe","is_ca":false},{"name":"Nigel M. Hooper","is_ca":false},{"name":"Emma Vardy","is_ca":false},{"name":"David Mann","is_ca":false},{"name":"Stuart Pickering‐Brown","is_ca":false},{"name":"Noor Kalsheker","is_ca":false},{"name":"James Lowe","is_ca":false},{"name":"Kevin Morgan","is_ca":false},{"name":"A. David Smith","is_ca":false},{"name":"Gordon Wilcock","is_ca":false},{"name":"Donald Warden","is_ca":false},{"name":"Clive Holmes","is_ca":false},{"name":"Pau Pástor","is_ca":false},{"name":"Oswaldo Lorenzo‐Betancor","is_ca":false},{"name":"Zoran Brkanac","is_ca":false},{"name":"Erick R. Scott","is_ca":false},{"name":"Eric J. Topol","is_ca":false},{"name":"Ekaterina Rogaeva","is_ca":true},{"name":"Andrew B. Singleton","is_ca":false},{"name":"M. Ilyas Kamboh","is_ca":false},{"name":"Peter St George‐Hyslop","is_ca":true},{"name":"Nigel J. Cairns","is_ca":false},{"name":"John C. Morris","is_ca":false},{"name":"John Kauwe","is_ca":false},{"name":"Alison Goate","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009801174215674535,"gpt":0.2530899166908596,"spread":0.2432887424751851,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000479265,0.0007687141,0.0004349704,0.001073047,0.0004576803,0.0004763896,0.0003893668,0.001194691,0.003954727],"category_scores_gemma":[0.002244436,0.0002756068,0.0006754153,0.0008666847,0.0004698282,0.0002387244,0.0003692996,0.0007712271,0.000354178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000251611,"about_ca_system_score_gemma":0.0001931093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001854033,"about_ca_topic_score_gemma":0.001084624,"domain_scores_codex":[0.9995441,0.0001344386,0.0000587056,0.0001018995,0.0001144083,0.00004637976],"domain_scores_gemma":[0.9988365,0.0006473956,0.0002629381,0.00008218711,0.00006399579,0.0001070926],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00778114,0.0002320056,0.6668406,0.0002085086,0.001491138,0.04241219,0.000675034,0.002206388,0.2349188,0.005168676,0.003428547,0.03463688],"study_design_scores_gemma":[0.0004299053,0.0004668367,0.8764446,0.00009796129,0.001336469,0.06662975,0.0004433229,0.004820594,0.03331704,0.01015305,0.00576388,0.00009661801],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921772,0.0009050392,0.00274851,0.0006722224,0.0000856109,0.00001165932,0.0008294208,0.0001054774,0.002464804],"genre_scores_gemma":[0.9984474,0.0001795581,0.0006799377,0.00007015145,0.00007229834,0.000003801008,0.000182013,0.00001589632,0.0003490578],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003954727,"threshold_uncertainty_score":0.01322991,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2277462866","doi":"10.1038/nn.4267","title":"Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders","year":2016,"lang":"en","type":"article","venue":"Nature Neuroscience","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":476,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Queen's University","funders":"National Institute of Mental Health; Medical Research Council; U.S. Public Health Service; National Institutes of Health; Cardiff University; Williams College; British Heart Foundation; Wellcome Trust; National Institute for Health and Care Research","keywords":"Biology; Exome sequencing; Schizophrenia (object-oriented programming); Genetics; Epigenetics; Exome; Genome-wide association study; Neurodevelopmental disorder; Phenotype; Loss function; Gene; Genotype; Single-nucleotide polymorphism; Medicine; Psychiatry","authors":[{"name":"Tarjinder Singh","is_ca":false},{"name":"Mitja Kurki","is_ca":false},{"name":"David Curtis","is_ca":false},{"name":"Shaun Purcell","is_ca":false},{"name":"Lucy Crooks","is_ca":false},{"name":"Jeremy F. McRae","is_ca":false},{"name":"Jaana Suvisaari","is_ca":false},{"name":"Himanshu Chheda","is_ca":false},{"name":"Douglas Blackwood","is_ca":false},{"name":"Gerome Breen","is_ca":true},{"name":"Olli Pietiläinen","is_ca":false},{"name":"Sebastian S. Gerety","is_ca":false},{"name":"Muhammad Ayub","is_ca":true},{"name":"Moira Blyth","is_ca":false},{"name":"Trevor Cole","is_ca":false},{"name":"David Collier","is_ca":false},{"name":"Eve L. Coomber","is_ca":false},{"name":"Nick Craddock","is_ca":false},{"name":"Mark J. Daly","is_ca":false},{"name":"John Danesh","is_ca":false},{"name":"Marta Di Forti","is_ca":false},{"name":"Alison Foster","is_ca":false},{"name":"Nelson B. Freimer","is_ca":false},{"name":"Daniel H. Geschwind","is_ca":false},{"name":"Mandy Johnstone","is_ca":false},{"name":"Shelagh Joss","is_ca":false},{"name":"George Kirov","is_ca":false},{"name":"Jarmo Körkkö","is_ca":false},{"name":"Outi Kuismin","is_ca":false},{"name":"Peter Holmans","is_ca":false},{"name":"Christina M. Hultman","is_ca":false},{"name":"Conrad Iyegbe","is_ca":false},{"name":"Jouko Lönnqvist","is_ca":false},{"name":"Minna Männikkö","is_ca":false},{"name":"Steve McCarroll","is_ca":false},{"name":"Peter McGuffin","is_ca":false},{"name":"Andrew M. McIntosh","is_ca":false},{"name":"Andrew McQuillin","is_ca":false},{"name":"Jukka S. Moilanen","is_ca":false},{"name":"Carmel Moore","is_ca":false},{"name":"Robin Murray","is_ca":false},{"name":"Ruth Newbury‐Ecob","is_ca":false},{"name":"Willem H. Ouwehand","is_ca":false},{"name":"Tiina Paunio","is_ca":false},{"name":"Elena Prigmore","is_ca":false},{"name":"Elliott Rees","is_ca":false},{"name":"David J. Roberts","is_ca":false},{"name":"Jennifer Sambrook","is_ca":false},{"name":"Pamela Sklar","is_ca":false},{"name":"David St Clair","is_ca":false},{"name":"Juha Veijola","is_ca":false},{"name":"James Walters","is_ca":false},{"name":"Hywel Williams","is_ca":false},{"name":"Patrick F. Sullivan","is_ca":false},{"name":"Matthew E. Hurles","is_ca":false},{"name":"Michael O‘Donovan","is_ca":false},{"name":"Aarno Palotie","is_ca":false},{"name":"Michael J. Owen","is_ca":false},{"name":"Jeffrey C. Barrett","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.004443919843996135,"gpt":0.206093197523852,"spread":0.2016492776798559,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005307842,0.001594351,0.0008174914,0.002031341,0.001001822,0.0008671453,0.001203685,0.001972749,0.0065929],"category_scores_gemma":[0.002802574,0.0004186644,0.0009730406,0.001663523,0.0009994288,0.0003725116,0.0008552974,0.001336941,0.000741638],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004034671,"about_ca_system_score_gemma":0.0003288102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00245299,"about_ca_topic_score_gemma":0.002886954,"domain_scores_codex":[0.9991089,0.0001567682,0.0001499662,0.0002628307,0.0002360502,0.00008547476],"domain_scores_gemma":[0.9974293,0.0008892931,0.001120578,0.0001235295,0.0001215659,0.0003158507],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.008951955,0.0004273253,0.443871,0.0006649836,0.003625361,0.0675628,0.001481393,0.004074117,0.4096923,0.006540047,0.007322093,0.04578668],"study_design_scores_gemma":[0.0006886414,0.0007170014,0.8005549,0.0003890741,0.002797306,0.126164,0.0009796033,0.00684254,0.03734948,0.009129788,0.01411204,0.0002755787],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899213,0.002095457,0.002697322,0.0007453719,0.000180665,0.00002769689,0.002268996,0.000115198,0.001947975],"genre_scores_gemma":[0.9961193,0.0003325603,0.001706362,0.0001943728,0.0000847756,0.00001807574,0.0007827704,0.00004616525,0.000715647],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0065929,"threshold_uncertainty_score":0.02205545,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2246559112","doi":"10.1038/nprot.2015.124","title":"Next-generation diagnostics and disease-gene discovery with the Exomiser","year":2015,"lang":"en","type":"article","venue":"Nature Protocols","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":466,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Institutes of Health","keywords":"Exome; Sanger sequencing; Computational biology; Exome sequencing; Computer science; Suite; DNA sequencing; Genetics; Biology; Gene; Bioinformatics; Mutation","authors":[{"name":"Damian Smedley","is_ca":false},{"name":"Julius O.B. Jacobsen","is_ca":false},{"name":"Marten Jäger","is_ca":false},{"name":"Sebastian Köhler","is_ca":false},{"name":"Manuel Holtgrewe","is_ca":false},{"name":"Max Schubach","is_ca":false},{"name":"Enrico Siragusa","is_ca":false},{"name":"Tomasz Żemojtel","is_ca":false},{"name":"Orion J. Buske","is_ca":true},{"name":"Nicole Washington","is_ca":false},{"name":"William P. Bone","is_ca":false},{"name":"Melissa Haendel","is_ca":false},{"name":"Peter N. Robinson","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02664112301437988,"gpt":0.2800315199897486,"spread":0.2533903969753687,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002817535,0.00107224,0.001096056,0.0009594361,0.0005913805,0.001876377,0.001055383,0.001602534,0.01026262],"category_scores_gemma":[0.002558042,0.001068194,0.0008324245,0.0006778105,0.00070007,0.00159908,0.002203488,0.003381316,0.003378569],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003992363,"about_ca_system_score_gemma":0.0006101144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001686952,"about_ca_topic_score_gemma":0.0006046834,"domain_scores_codex":[0.9987202,0.0003254844,0.00008358125,0.0003459243,0.000416121,0.0001087306],"domain_scores_gemma":[0.9991258,0.0005162308,0.00006408615,0.0001633366,0.00005663939,0.00007393541],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001374715,0.0001611612,0.003206557,0.001000294,0.000381371,0.0008549371,0.000272882,0.002488673,0.6738214,0.05993757,0.04564385,0.2108566],"study_design_scores_gemma":[0.0003450793,0.0003510492,0.002911897,0.000162044,0.0001735727,0.002472894,0.00005859042,0.02707887,0.612211,0.04047114,0.3135994,0.0001644149],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.07308145,0.01922164,0.822033,0.007910163,0.0029106,0.0006747358,0.01512711,0.02118214,0.03785916],"genre_scores_gemma":[0.2038671,0.009948294,0.721724,0.006054324,0.0008234244,0.002010199,0.01900912,0.002623533,0.03393997],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01026262,"threshold_uncertainty_score":0.03433186,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2766662494","doi":"10.1016/j.ajhg.2017.09.008","title":"High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies","year":2017,"lang":"en","type":"review","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":456,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre hospitalier universitaire de Québec; Cégep de l'Abitibi Témiscamingue; Children's Hospital of Eastern Ontario; Centre Hospitalier Universitaire de Sherbrooke; University of British Columbia; Toronto Western Hospital; Université du Québec à Chicoutimi; Université de Montréal; Hospital for Sick Children; Université du Québec à Montréal; McGill University and Génome Québec Innovation Centre; Montreal Neurological Institute and Hospital; McGill Genome Centre; SickKids Foundation; Université de Sherbrooke; University of Toronto; McGill University; BC Children's Hospital; Centre Hospitalier de l’Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; University of Toronto; Génome Québec; Fondation Jean-Louis Lévesque; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Ontario Brain Institute; Genome Canada","keywords":"Genetics; Missense mutation; Candidate gene; Biology; Gene; Intellectual disability; Epilepsy; Whole genome sequencing; Mutation; Genome; Neuroscience","authors":[{"name":"Fadi F. Hamdan","is_ca":true},{"name":"Candace T. Myers","is_ca":false},{"name":"Patrick Cossette","is_ca":true},{"name":"Philippe Lemay","is_ca":true},{"name":"Dan Spiegelman","is_ca":true},{"name":"Alexandre D. Laporte","is_ca":true},{"name":"Christina Nassif","is_ca":true},{"name":"Ousmane Diallo","is_ca":true},{"name":"Jean Monlong","is_ca":true},{"name":"Maxime Cadieux‐Dion","is_ca":true},{"name":"Sylvia Dobrzeniecka","is_ca":true},{"name":"Caroline Meloche","is_ca":true},{"name":"Kyle Retterer","is_ca":false},{"name":"Megan T. Cho","is_ca":false},{"name":"Jill A. Rosenfeld","is_ca":false},{"name":"Weimin Bi","is_ca":false},{"name":"Christine Massicotte","is_ca":true},{"name":"Marguerite Miguet","is_ca":true},{"name":"Ledia Brunga","is_ca":true},{"name":"Brigid M. Regan","is_ca":true},{"name":"Kelly Mo","is_ca":true},{"name":"Cory Tam","is_ca":true},{"name":"Amy Schneider","is_ca":false},{"name":"Georgie Hollingsworth","is_ca":false},{"name":"David Fitzpatrick","is_ca":false},{"name":"Alan Donaldson","is_ca":false},{"name":"Natalie Canham","is_ca":false},{"name":"Edward Blair","is_ca":false},{"name":"Bronwyn Kerr","is_ca":false},{"name":"Andrew E. Fry","is_ca":false},{"name":"Rhys H. Thomas","is_ca":false},{"name":"Joss Shelagh","is_ca":false},{"name":"Jane A. Hurst","is_ca":false},{"name":"Helen Brittain","is_ca":false},{"name":"Moira Blyth","is_ca":false},{"name":"Robert Roger Lebel","is_ca":false},{"name":"Erica H. Gerkes","is_ca":false},{"name":"Laura Davis‐Keppen","is_ca":false},{"name":"Quinn Stein","is_ca":false},{"name":"Wendy K. Chung","is_ca":false},{"name":"Sara J. Dorison","is_ca":false},{"name":"Paul J. Benke","is_ca":false},{"name":"Emily Fassi","is_ca":false},{"name":"Nicole Corsten‐Janssen","is_ca":false},{"name":"Erik‐Jan Kamsteeg","is_ca":false},{"name":"Frédéric Tran Mau‐Them","is_ca":false},{"name":"Ange‐Line Bruel","is_ca":false},{"name":"Alain Verloès","is_ca":false},{"name":"Katrin Õunap","is_ca":false},{"name":"Monica H. Wojcik","is_ca":false},{"name":"Dara V.F. Albert","is_ca":false},{"name":"Sunita Venkateswaran","is_ca":true},{"name":"Tyson L. Ware","is_ca":false},{"name":"Dean Jones","is_ca":false},{"name":"Yu‐Chi Liu","is_ca":false},{"name":"Shekeeb S. Mohammad","is_ca":false},{"name":"Peyman Bizargity","is_ca":false},{"name":"Carlos A. Bacino","is_ca":false},{"name":"Vincenzo Leuzzi","is_ca":false},{"name":"Simone Martinelli","is_ca":false},{"name":"Bruno Dallapiccola","is_ca":false},{"name":"Marco Tartaglia","is_ca":false},{"name":"Lubov Blumkin","is_ca":false},{"name":"Klaas J. Wierenga","is_ca":false},{"name":"Gabriela Purcarin","is_ca":false},{"name":"James J. O’Byrne","is_ca":true},{"name":"Sylvia Stöckler","is_ca":true},{"name":"Anna Lehman","is_ca":true},{"name":"Boris Keren","is_ca":false},{"name":"Marie‐Christine Nouguès","is_ca":false},{"name":"Cyril Mignot","is_ca":false},{"name":"Stéphane Auvin","is_ca":false},{"name":"Caroline Nava","is_ca":false},{"name":"Susan M. Hiatt","is_ca":false},{"name":"Martina Bebin","is_ca":false},{"name":"Yunru Shao","is_ca":false},{"name":"Fernando Scaglia","is_ca":false},{"name":"Seema R. Lalani","is_ca":false},{"name":"Richard E. Frye","is_ca":false},{"name":"Imad T. Jarjour","is_ca":false},{"name":"Stéphanie Jacques","is_ca":true},{"name":"Renee-Myriam Boucher","is_ca":true},{"name":"Émilie Riou","is_ca":true},{"name":"Myriam Srour","is_ca":true},{"name":"Lionel Carmant","is_ca":true},{"name":"Anne Lortie","is_ca":true},{"name":"Philippe Major","is_ca":true},{"name":"Paola Diadori","is_ca":true},{"name":"François Dubeau","is_ca":true},{"name":"Guy D’Anjou","is_ca":true},{"name":"Guillaume Bourque","is_ca":true},{"name":"Samuel F. Berkovic","is_ca":false},{"name":"Lynette G. Sadleir","is_ca":false},{"name":"Philippe M. Campeau","is_ca":true},{"name":"Zoha Kibar","is_ca":true},{"name":"Ronald G. Lafrenière","is_ca":true},{"name":"Simon Girard","is_ca":true},{"name":"Saadet Mercimek‐Mahmutoglu","is_ca":true},{"name":"Cyrus Boelman","is_ca":true},{"name":"Guy A. Rouleau","is_ca":true},{"name":"Ingrid E. Scheffer","is_ca":false},{"name":"Heather C. Mefford","is_ca":false},{"name":"Danielle M. Andrade","is_ca":true},{"name":"Elsa Rossignol","is_ca":true},{"name":"Berge A. Minassian","is_ca":true},{"name":"Jacques L. Michaud","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04638554223442326,"gpt":0.3383900866201144,"spread":0.2920045443856912,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000758167,0.0004313987,0.001049878,0.001308161,0.0001306606,0.0006902359,0.0006525083,0.001154093,0.001872331],"category_scores_gemma":[0.001586272,0.0001079204,0.0003392276,0.0009961491,0.0003955252,0.0006532064,0.0004458712,0.0009124706,0.0007204967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003033303,"about_ca_system_score_gemma":0.0006525634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000491795,"about_ca_topic_score_gemma":0.00085289,"domain_scores_codex":[0.9997151,0.00005251694,0.00005187536,0.00006843056,0.0000879537,0.00002414686],"domain_scores_gemma":[0.9992773,0.0004282358,0.0001202998,0.00002080027,0.0001102499,0.00004311762],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001032394,0.00002623425,0.003571211,0.005077371,0.0001729442,0.003774142,0.00006678025,0.0002979648,0.001606271,0.00278098,0.01775015,0.9647727],"study_design_scores_gemma":[0.00005282926,0.0001305795,0.01207497,0.005467832,0.0007485091,0.06856525,0.0001751638,0.0002619486,0.001900846,0.004866359,0.9057045,0.00005114546],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001310135,0.9957961,0.0004907759,0.0007191678,0.0002271334,0.000002796707,0.00004592202,0.00001676455,0.00139113],"genre_scores_gemma":[0.009338945,0.9875057,0.0006703538,0.0008269981,0.0007242329,0.000005325696,0.0001112076,0.000007852613,0.0008093641],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001872331,"threshold_uncertainty_score":0.006263554,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2611574484","doi":"10.1016/j.ajhg.2017.04.003","title":"International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases","year":2017,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":453,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; University of Toronto; University of British Columbia; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Medical Research Council; Ontario Genomics Institute; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Wellcome Trust; European Commission; Johns Hopkins University; University of Washington","keywords":"Computer science; Computational biology; Biology","authors":[{"name":"Kym M. Boycott","is_ca":true},{"name":"Ana Rath","is_ca":false},{"name":"Jessica X. Chong","is_ca":false},{"name":"Taila Hartley","is_ca":true},{"name":"Fowzan S. Alkuraya","is_ca":false},{"name":"Gareth Baynam","is_ca":false},{"name":"Anthony J. Brookes","is_ca":false},{"name":"Michael Brudno","is_ca":true},{"name":"Ãngel Carracedo","is_ca":false},{"name":"Johan T. den Dunnen","is_ca":false},{"name":"Stephanie O. M. Dyke","is_ca":true},{"name":"Xavier Estivill","is_ca":false},{"name":"Jack Goldblatt","is_ca":false},{"name":"Catherine Gonthier","is_ca":false},{"name":"Stephen C. Groft","is_ca":false},{"name":"Marta Gut","is_ca":false},{"name":"Ada Hamosh","is_ca":false},{"name":"Philip Hieter","is_ca":true},{"name":"Sophie Höhn","is_ca":false},{"name":"Matthew E. Hurles","is_ca":false},{"name":"Petra Kaufmann","is_ca":false},{"name":"Bartha Maria Knoppers","is_ca":true},{"name":"Jeffrey P. Krischer","is_ca":false},{"name":"Milan Maçek","is_ca":false},{"name":"Gert Matthijs","is_ca":false},{"name":"Annie Olry","is_ca":false},{"name":"Samantha Parker","is_ca":false},{"name":"Justin Paschall","is_ca":false},{"name":"Anthony Philippakis","is_ca":false},{"name":"Heidi L. Rehm","is_ca":false},{"name":"Peter N. Robinson","is_ca":false},{"name":"Pak C. Sham","is_ca":false},{"name":"Румен Стефанов","is_ca":false},{"name":"Domenica Taruscio","is_ca":false},{"name":"Divya Unni","is_ca":false},{"name":"Megan R. Vanstone","is_ca":true},{"name":"Feng Zhang","is_ca":false},{"name":"Han G. Brunner","is_ca":false},{"name":"Michael J. Bamshad","is_ca":false},{"name":"Hanns Lochmüller","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01485170619201797,"gpt":0.2918985219165635,"spread":0.2770468157245455,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02549854,0.001497783,0.0009313276,0.002586442,0.001637991,0.003137218,0.001941735,0.004026895,0.02978064],"category_scores_gemma":[0.02162353,0.000471621,0.001086231,0.002302966,0.001673866,0.002228937,0.008000394,0.006250774,0.01098808],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002592693,"about_ca_system_score_gemma":0.02518142,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007482121,"about_ca_topic_score_gemma":0.004813244,"domain_scores_codex":[0.9859895,0.006630777,0.001090605,0.0009987184,0.002879684,0.002410735],"domain_scores_gemma":[0.9645358,0.005560588,0.003055751,0.005337009,0.01217195,0.009338945],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003569509,0.0002219048,0.01201027,0.0008045103,0.0001816863,0.001261448,0.001351086,0.0008701415,0.005674152,0.08765014,0.5428786,0.3467391],"study_design_scores_gemma":[0.00003881726,0.00006783615,0.005600611,0.000369169,0.00002907827,0.0008832333,0.000341672,0.0002362903,0.0005397329,0.004910042,0.9869663,0.00001730735],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"other","genre_gemma":"empirical","genre_scores_codex":[0.01193241,0.05882412,0.0774968,0.3885629,0.04868211,0.002095053,0.00716397,0.002293154,0.4029496],"genre_scores_gemma":[0.2006124,0.05355335,0.2187427,0.1133239,0.01393915,0.003668518,0.02061949,0.001312085,0.3742285],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.02978064,"threshold_uncertainty_score":0.1348508,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2001188663","doi":"10.1038/ng.886","title":"Increased exonic de novo mutation rate in individuals with schizophrenia","year":2011,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":443,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University; Douglas Mental Health University Institute; Centre Hospitalier de l’Université de Montréal","funders":"Canadian Institutes of Health Research","keywords":"Proband; Genetics; Biology; Schizophrenia (object-oriented programming); Exome sequencing; Psychosis; Heritability; Genetic association; Mutation; Gene; Psychology; Genotype; Single-nucleotide polymorphism; Psychiatry","authors":[{"name":"Simon Girard","is_ca":true},{"name":"Julie Gauthier","is_ca":true},{"name":"Anne Noreau","is_ca":true},{"name":"Lan Xiong","is_ca":true},{"name":"Sirui Zhou","is_ca":true},{"name":"Loubna Jouan","is_ca":true},{"name":"Alexandre Dionne‐Laporte","is_ca":true},{"name":"Dan Spiegelman","is_ca":true},{"name":"Édouard Henrion","is_ca":true},{"name":"Ousmane Diallo","is_ca":true},{"name":"Pascale Thibodeau","is_ca":true},{"name":"Isabelle Bachand","is_ca":true},{"name":"Jessie Y.J. Bao","is_ca":false},{"name":"Amy H.Y. Tong","is_ca":false},{"name":"Chi-Ho Lin","is_ca":false},{"name":"Bruno Millet","is_ca":false},{"name":"Nématollah Jaafari","is_ca":false},{"name":"Ridha Joober","is_ca":true},{"name":"Patrick A. Dion","is_ca":true},{"name":"Si Lok","is_ca":false},{"name":"Marie‐Odile Krebs","is_ca":false},{"name":"Guy A. Rouleau","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006587245054161709,"gpt":0.2242580129813921,"spread":0.2176707679272304,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004492846,0.0005600621,0.0004973491,0.002398058,0.0004590881,0.0005718335,0.0003456067,0.0009341064,0.005591609],"category_scores_gemma":[0.002517041,0.0002880215,0.00041058,0.0007834156,0.0002966057,0.0003815374,0.0003446174,0.0005624951,0.0005153023],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001662991,"about_ca_system_score_gemma":0.0001766463,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001374106,"about_ca_topic_score_gemma":0.001074975,"domain_scores_codex":[0.9994571,0.0001287722,0.00009917509,0.0001549039,0.000102465,0.0000576814],"domain_scores_gemma":[0.9983504,0.000683778,0.0004888302,0.0001451532,0.0001505468,0.0001814209],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003042122,0.0001749299,0.7476864,0.0001372821,0.0004846148,0.01833732,0.0009626414,0.0008063808,0.2067621,0.0007842564,0.0007464637,0.02007553],"study_design_scores_gemma":[0.00004939704,0.0003488182,0.9463222,0.00003193068,0.0003204909,0.03792036,0.0004089993,0.001504063,0.01143885,0.0008681463,0.0007372821,0.00004930855],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985329,0.0001850248,0.0003915473,0.00005680533,0.00001858468,0.000003908463,0.0002979053,0.00002972079,0.0004836163],"genre_scores_gemma":[0.999143,0.00008186019,0.0002913266,0.00003113882,0.00001187523,0.000003324716,0.0001233276,0.00001735096,0.0002968012],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005591609,"threshold_uncertainty_score":0.01870579,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2107949418","doi":"10.1186/gb-2014-15-3-r53","title":"An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge","year":2014,"lang":"en","type":"article","venue":"Genome biology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":432,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; SickKids Foundation; University of Toronto; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; Alberta Children's Hospital; University of Calgary; McGill University; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Manton Center for Orphan Disease Research, Boston Children's Hospital; Howard Hughes Medical Institute","keywords":"Biology; CLARITY; Human genetics; Genome Biology; Personal genomics; Computational biology; Best practice; Interpretation (philosophy); Genome; DNA sequencing; Data science; Evolutionary biology; Whole genome sequencing; Genomics; Genetics; DNA; Gene; Computer science; Political science","authors":[{"name":"Catherine A. Brownstein","is_ca":false},{"name":"Alan H. Beggs","is_ca":false},{"name":"Nils Homer","is_ca":false},{"name":"Barry Merriman","is_ca":false},{"name":"Timothy W. Yu","is_ca":false},{"name":"Katherine C Flannery","is_ca":false},{"name":"Elizabeth T. DeChene","is_ca":false},{"name":"Meghan C. Towne","is_ca":false},{"name":"Sarah Savage","is_ca":false},{"name":"Emily Price","is_ca":false},{"name":"Ingrid A. Holm","is_ca":false},{"name":"Lovelace J. Luquette","is_ca":false},{"name":"Elaine Lyon","is_ca":false},{"name":"Joseph A. Majzoub","is_ca":false},{"name":"Peter Neupert","is_ca":false},{"name":"David P. McCallie","is_ca":false},{"name":"Peter Szolovits","is_ca":false},{"name":"Huntington F. Willard","is_ca":false},{"name":"Nancy J. Mendelsohn","is_ca":false},{"name":"Renee Temme","is_ca":false},{"name":"Richard S. Finkel","is_ca":false},{"name":"Līvija Medne","is_ca":false},{"name":"Shamil Sunyaev","is_ca":false},{"name":"Ivan Adzhubey","is_ca":false},{"name":"Christopher A. Cassa","is_ca":false},{"name":"Paul IW de Bakker","is_ca":false},{"name":"Hatice Duzkale","is_ca":false},{"name":"Piotr Dworzyński","is_ca":false},{"name":"William G. Fairbrother","is_ca":false},{"name":"Laurent C. Francioli","is_ca":false},{"name":"Birgit Funke","is_ca":false},{"name":"Monica A. Giovanni","is_ca":false},{"name":"Robert E. Handsaker","is_ca":false},{"name":"Kasper Lage","is_ca":false},{"name":"Matthew S. Lebo","is_ca":false},{"name":"Monkol Lek","is_ca":false},{"name":"Ignaty Leshchiner","is_ca":false},{"name":"Daniel G. MacArthur","is_ca":false},{"name":"Heather M. McLaughlin","is_ca":false},{"name":"Michael F. Murray","is_ca":false},{"name":"Tune H. Pers","is_ca":false},{"name":"Paz Polak","is_ca":false},{"name":"Soumya Raychaudhuri","is_ca":false},{"name":"Heidi L. Rehm","is_ca":false},{"name":"Rachel Soemedi","is_ca":false},{"name":"Nathan O. Stitziel","is_ca":false},{"name":"Sara Vestecka","is_ca":false},{"name":"Jochen Supper","is_ca":false},{"name":"Claudia Gugenmus","is_ca":false},{"name":"Bernward Klocke","is_ca":false},{"name":"Alexander Hahn","is_ca":false},{"name":"Max Schubach","is_ca":false},{"name":"Mortiz Menzel","is_ca":false},{"name":"Saskia Biskup","is_ca":false},{"name":"Peter Freisinger","is_ca":false},{"name":"Mario C. Deng","is_ca":false},{"name":"Martin Braun","is_ca":false},{"name":"Sven Perner","is_ca":false},{"name":"Janeen L Andorf","is_ca":false},{"name":"Jian Huang","is_ca":false},{"name":"Kelli K. Ryckman","is_ca":false},{"name":"Val C. Sheffield","is_ca":false},{"name":"Edwin M. Stone","is_ca":false},{"name":"Thomas Bair","is_ca":false},{"name":"E. Ann Black-Ziegelbein","is_ca":false},{"name":"Terry A. Braun","is_ca":false},{"name":"Benjamin W. Darbro","is_ca":false},{"name":"Adam P. DeLuca","is_ca":false},{"name":"Diana L. Kolbe","is_ca":false},{"name":"Todd E. Scheetz","is_ca":false},{"name":"A. Eliot Shearer","is_ca":false},{"name":"Rama Sompallae","is_ca":false},{"name":"Kai Wang","is_ca":false},{"name":"Alexander G. Bassuk","is_ca":false},{"name":"Erik Edens","is_ca":false},{"name":"Katherine D. Mathews","is_ca":false},{"name":"Steven A. Moore","is_ca":false},{"name":"Oleg A. Shchelochkov","is_ca":false},{"name":"Pamela Trapane","is_ca":false},{"name":"Aaron Bossler","is_ca":false},{"name":"Colleen A. Campbell","is_ca":false},{"name":"Jonathan W. Heusel","is_ca":false},{"name":"Anne E. Kwitek","is_ca":false},{"name":"Tara Maga","is_ca":false},{"name":"Karin Panzer","is_ca":false},{"name":"Thomas H. Wassink","is_ca":false},{"name":"Douglas J. Van Daele","is_ca":false},{"name":"Héla Azaiez","is_ca":false},{"name":"Kevin T. Booth","is_ca":false},{"name":"Nic Meyer","is_ca":false},{"name":"Michael M. Segal","is_ca":false},{"name":"Marc S. Williams","is_ca":false},{"name":"Gerard Tromp","is_ca":false},{"name":"Peter White","is_ca":false},{"name":"Donald J. Corsmeier","is_ca":false},{"name":"Sara Fitzgerald‐Butt","is_ca":false},{"name":"Gail E. Herman","is_ca":false},{"name":"Devon Lamb-Thrush","is_ca":false},{"name":"Kim L. McBride","is_ca":false},{"name":"David Newsom","is_ca":false},{"name":"Christopher R. Pierson","is_ca":false},{"name":"Alexander Rakowsky","is_ca":false},{"name":"Aleš Maver","is_ca":false},{"name":"Luca Lovrečić","is_ca":false},{"name":"Anja Palandačić","is_ca":false},{"name":"Borut Peterlin","is_ca":false},{"name":"Ali Torkamani","is_ca":false},{"name":"Anna Wedell","is_ca":false},{"name":"Mikael Huss","is_ca":false},{"name":"Andrey Alexeyenko","is_ca":false},{"name":"Jessica M. Lindvall","is_ca":false},{"name":"Måns Magnusson","is_ca":false},{"name":"Daniel Nilsson","is_ca":false},{"name":"Henrik Stranneheim","is_ca":false},{"name":"Fulya Taylan","is_ca":false},{"name":"Christian Gilissen","is_ca":false},{"name":"Alexander Hoischen","is_ca":false},{"name":"Bregje W.M. van Bon","is_ca":false},{"name":"Helger G. Yntema","is_ca":false},{"name":"Marcel Nelen","is_ca":false},{"name":"Weidong Zhang","is_ca":false},{"name":"Jason A. Sager","is_ca":false},{"name":"Lu Zhang","is_ca":false},{"name":"Kathryn Blair","is_ca":false},{"name":"Deniz Kural","is_ca":false},{"name":"Michael Cariaso","is_ca":false},{"name":"Greg Lennon","is_ca":false},{"name":"Asif Javed","is_ca":false},{"name":"Saloni Agrawal","is_ca":false},{"name":"Pauline C. Ng","is_ca":false},{"name":"Komal S Sandhu","is_ca":false},{"name":"Shuba Krishna","is_ca":false},{"name":"Vamsi Veeramachaneni","is_ca":false},{"name":"Ofer Isakov","is_ca":false},{"name":"Eran Halperin","is_ca":false},{"name":"Eitan Friedman","is_ca":false},{"name":"Noam Shomron","is_ca":false},{"name":"Gustavo Glusman","is_ca":false},{"name":"Jared C. Roach","is_ca":false},{"name":"Hannah C. Cox","is_ca":false},{"name":"Denise E. Mauldin","is_ca":false},{"name":"Seth A. Ament","is_ca":false},{"name":"Lee Rowen","is_ca":false},{"name":"Daniel R. Richards","is_ca":false},{"name":"F Anthony San Lucas","is_ca":false},{"name":"Manuel L. Gonzalez‐Garay","is_ca":false},{"name":"C. Thomas Caskey","is_ca":false},{"name":"Yu Bai","is_ca":false},{"name":"Ying Huang","is_ca":false},{"name":"Fang Fang","is_ca":false},{"name":"Yan Zhang","is_ca":false},{"name":"Zhengyuan Wang","is_ca":false},{"name":"Jorge de la Barrera","is_ca":false},{"name":"Juan M. Garcı́a-Lobo","is_ca":false},{"name":"Domingo González‐Lamuño","is_ca":false},{"name":"Javier Llorca","is_ca":false},{"name":"M. C. Rodríguez","is_ca":false},{"name":"Ignacio Varela","is_ca":false},{"name":"Martin G. Reese","is_ca":false},{"name":"Francisco M. De La Vega","is_ca":false},{"name":"Edward S. Kiruluta","is_ca":false},{"name":"Michele Cargill","is_ca":false},{"name":"Reece K. Hart","is_ca":false},{"name":"Jon M. Sorenson","is_ca":false},{"name":"Gholson J. Lyon","is_ca":false},{"name":"David A. Stevenson","is_ca":false},{"name":"Bruce E. Bray","is_ca":false},{"name":"Barry Moore","is_ca":false},{"name":"Karen Eilbeck","is_ca":false},{"name":"Mark Yandell","is_ca":false},{"name":"Hongyu Zhao","is_ca":false},{"name":"Lin Hou","is_ca":false},{"name":"Xiaowei Chen","is_ca":false},{"name":"Xiting Yan","is_ca":false},{"name":"Mengjie Chen","is_ca":false},{"name":"Cong Li","is_ca":false},{"name":"Can Yang","is_ca":false},{"name":"Murat Günel","is_ca":false},{"name":"Peining Li","is_ca":false},{"name":"Yong Kong","is_ca":false},{"name":"Austin C Alexander","is_ca":false},{"name":"Zayed Albertyn","is_ca":false},{"name":"Kym M. Boycott","is_ca":true},{"name":"Dennis E. Bulman","is_ca":true},{"name":"Paul M. K. Gordon","is_ca":true},{"name":"A. Micheil Innes","is_ca":true},{"name":"Bartha Maria Knoppers","is_ca":true},{"name":"Jacek Majewski","is_ca":true},{"name":"Christian R. Marshall","is_ca":true},{"name":"Jillian S. Parboosingh","is_ca":true},{"name":"Sarah L. Sawyer","is_ca":true},{"name":"Mark E. Samuels","is_ca":true},{"name":"Jeremy Schwartzentruber","is_ca":true},{"name":"Isaac S. Kohane","is_ca":false},{"name":"David Margulies","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1160671162138862,"gpt":0.4474668136495942,"spread":0.331399697435708,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":["metaresearch"],"category_scores_codex":[0.6877689,0.002414873,0.003407661,0.01363911,0.009857905,0.03410097,0.0182798,0.01773454,0.004610557],"category_scores_gemma":[0.5631242,0.002905699,0.00437368,0.01048882,0.02615946,0.02141785,0.03603841,0.03731759,0.003689314],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.02116806,"about_ca_system_score_gemma":0.1473901,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01219026,"about_ca_topic_score_gemma":0.006098785,"domain_scores_codex":[0.4025034,0.365716,0.07516292,0.02911566,0.1144013,0.01310071],"domain_scores_gemma":[0.1589875,0.3407709,0.04818588,0.1414821,0.2731501,0.03742364],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0003992126,0.001275482,0.01741782,0.004029128,0.0003705245,0.001501145,0.0785209,0.005187829,0.01024578,0.2265389,0.1405717,0.5139416],"study_design_scores_gemma":[0.0001536659,0.0008408481,0.02322298,0.01513939,0.0002061154,0.0023325,0.0325747,0.0132992,0.008034282,0.1580085,0.7454207,0.000767166],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.01748568,0.009363759,0.6011091,0.3271095,0.01050083,0.005869003,0.0004543907,0.002574223,0.02553341],"genre_scores_gemma":[0.07511103,0.003439542,0.8705558,0.03698321,0.001966796,0.004083449,0.001248386,0.001486034,0.005125789],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.3122311,"threshold_uncertainty_score":0.3850366,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2012750155","doi":"10.1038/470163a","title":"Too many roads not taken","year":2011,"lang":"en","type":"article","venue":"Nature","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":431,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"University of North Carolina at Chapel Hill; University of Toronto; Seoul National University; GlaxoSmithKline","keywords":"Proteome; Druggability; Computational biology; Human proteome project; Human genome; Genome; Biology; Relevance (law); Data science; Bioinformatics; Genetics; Proteomics; Computer science; Gene; Political science","authors":[{"name":"A.M. Edwards","is_ca":true},{"name":"Ruth Isserlin","is_ca":true},{"name":"Gary D. Bader","is_ca":true},{"name":"Stephen V. Frye","is_ca":false},{"name":"Timothy M. Willson","is_ca":false},{"name":"Frank H. Yu","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0091934996863274,"gpt":0.2262908176517665,"spread":0.2170973179654391,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01633338,0.001369556,0.002105488,0.001726366,0.007320682,0.01077023,0.00232073,0.01242807,0.03926797],"category_scores_gemma":[0.04125388,0.0007342512,0.001102448,0.001194555,0.01746928,0.02347408,0.008448742,0.03160772,0.01909303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004531018,"about_ca_system_score_gemma":0.009059385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0048856,"about_ca_topic_score_gemma":0.009600221,"domain_scores_codex":[0.988429,0.004008749,0.0006171098,0.001796607,0.003917175,0.001231444],"domain_scores_gemma":[0.9624209,0.009438239,0.001276611,0.005357884,0.0117218,0.009784507],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001438053,0.00008042652,0.0007635115,0.0004091854,0.0001244166,0.0002824013,0.0006424486,0.0001982025,0.000531702,0.1903561,0.737057,0.06941082],"study_design_scores_gemma":[0.00004735857,0.00004295514,0.0006444975,0.0004322165,0.00005026009,0.0002484111,0.001615177,0.0001186209,0.0001945718,0.2156184,0.7809317,0.00005575767],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.00111528,0.02469737,0.003148933,0.8832186,0.06083702,0.00002021737,0.0001845781,0.0002806131,0.02649746],"genre_scores_gemma":[0.04243094,0.01959982,0.004849087,0.8344842,0.0308965,0.0001297669,0.0002473315,0.000523006,0.06683937],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.03926797,"threshold_uncertainty_score":0.1313645,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4381598122","doi":"10.1016/j.gim.2023.100866","title":"ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":417,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; National Human Genome Research Institute; Genentech; National Institutes of Health; National Cancer Institute; Regeneron Pharmaceuticals","keywords":"Medical genetics; Exome sequencing; Context (archaeology); Genomics; Exome; Medicine; Genetics; Family medicine; Genome; Biology; Mutation; Gene","authors":[{"name":"David T. Miller","is_ca":false},{"name":"Kristy Lee","is_ca":false},{"name":"Noura S. Abul‐Husn","is_ca":false},{"name":"Laura M. Amendola","is_ca":false},{"name":"Kyle B. Brothers","is_ca":false},{"name":"Wendy K. Chung","is_ca":false},{"name":"Michael H. Gollob","is_ca":true},{"name":"Allan Gordon","is_ca":false},{"name":"Steven M. Harrison","is_ca":false},{"name":"Ray E. Hershberger","is_ca":false},{"name":"Teri E. Klein","is_ca":false},{"name":"C. Sue Richards","is_ca":false},{"name":"Douglas R. Stewart","is_ca":false},{"name":"Christa Lese Martin","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05331542734098311,"gpt":0.3864521903934062,"spread":0.3331367630524231,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.05010103,0.001581556,0.003594041,0.01474185,0.005279098,0.008943638,0.005209222,0.02718218,0.254564],"category_scores_gemma":[0.1719942,0.002559498,0.002751503,0.01511069,0.002887833,0.004520968,0.005968377,0.01177739,0.2135506],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003900536,"about_ca_system_score_gemma":0.02656152,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02496444,"about_ca_topic_score_gemma":0.03283783,"domain_scores_codex":[0.9616828,0.01155834,0.008096226,0.002202316,0.01219585,0.004264495],"domain_scores_gemma":[0.7112947,0.1268834,0.0255121,0.02555493,0.08955261,0.02120228],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002189731,0.00005832579,0.0008757546,0.0004303589,0.00002060611,0.0001223166,0.00009026114,0.000138318,0.0004103462,0.00396128,0.9809574,0.01271601],"study_design_scores_gemma":[0.0005559363,0.0001436369,0.006612937,0.002552619,0.00007016994,0.000564858,0.0002182913,0.0007746514,0.001434988,0.01240754,0.974481,0.0001834856],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"other","genre_scores_codex":[0.003649879,0.002555613,0.05803763,0.1722082,0.0292858,0.01011976,0.4091521,0.03145977,0.2835314],"genre_scores_gemma":[0.01694297,0.003853523,0.09540588,0.3062437,0.02046088,0.02094021,0.316491,0.01246032,0.2072014],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.254564,"threshold_uncertainty_score":0.8516012,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2906821085","doi":"10.1016/j.ajhg.2018.11.014","title":"Integrating Genomics into Healthcare: A Global Responsibility","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":395,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Ontario Genomics; Ontario Institute for Cancer Research","funders":"Medical Research Council; National Institute for Health and Care Research; Health Data Research UK; National Health and Medical Research Council; Australian Genomics Health Alliance; Cancer Research UK; Wellcome Trust","keywords":"Transformative learning; Government (linguistics); Health care; Precision medicine; Data sharing; Diversity (politics); Genomics; Business; Personalized medicine; Political science; Economic growth; Medicine; Bioinformatics; Sociology; Biology; Genome; Alternative medicine; Economics","authors":[{"name":"Zornitza Stark","is_ca":false},{"name":"Lena Dolman","is_ca":true},{"name":"Teri A. Manolio","is_ca":false},{"name":"Brad Ozenberger","is_ca":false},{"name":"Sue Hill","is_ca":false},{"name":"Mark J. Caulfied","is_ca":false},{"name":"Yves Lévy","is_ca":false},{"name":"David Glazer","is_ca":false},{"name":"Julia L. Wilson","is_ca":false},{"name":"Mark Lawler","is_ca":false},{"name":"Tiffany Boughtwood","is_ca":false},{"name":"Jeffrey Braithwaite","is_ca":false},{"name":"Peter Goodhand","is_ca":true},{"name":"Ewan Birney","is_ca":true},{"name":"Kathryn N. North","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008103850877362772,"gpt":0.2919829303738561,"spread":0.2838790794964934,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.05061609,0.001548019,0.002292037,0.002301075,0.003769974,0.01835325,0.003418457,0.01960996,0.02025872],"category_scores_gemma":[0.04588111,0.0008084648,0.001224492,0.003139083,0.01342054,0.01943903,0.01750006,0.0246808,0.006213788],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006390888,"about_ca_system_score_gemma":0.03764237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003396927,"about_ca_topic_score_gemma":0.003223172,"domain_scores_codex":[0.9739512,0.01135321,0.00160431,0.002207527,0.007582976,0.003300685],"domain_scores_gemma":[0.8755636,0.03110818,0.005437093,0.01029554,0.02731187,0.05028363],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001096626,0.0002950291,0.002896663,0.0005969051,0.0002352412,0.0003502374,0.001577294,0.001092434,0.001540245,0.2156738,0.6108614,0.164771],"study_design_scores_gemma":[0.00005103774,0.0001060503,0.003025288,0.001075775,0.00007227051,0.0004885236,0.002898499,0.0008791529,0.0004080234,0.1635916,0.8273033,0.0001003848],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.0009415331,0.01336998,0.009649932,0.9463486,0.009339091,0.00002856421,0.00008220614,0.0002339701,0.02000617],"genre_scores_gemma":[0.181548,0.07754782,0.04429526,0.6013232,0.05043436,0.0001862589,0.000862963,0.0009173999,0.04288465],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.05061609,"threshold_uncertainty_score":0.2676867,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2120282622","doi":"10.1056/nejmoa1314432","title":"Somatic Mutations in Cerebral Cortical Malformations","year":2014,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":394,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institute of General Medical Sciences; National Human Genome Research Institute; Manton Center for Orphan Disease Research, Boston Children's Hospital; Howard Hughes Medical Institute","keywords":"Somatic cell; Medicine; Germline mutation; Mutation; Genetics; Disease; Neuroscience; Pathology; Gene; Biology","authors":[{"name":"Saumya Shekhar Jamuar","is_ca":false},{"name":"Anh-Thu N. Lam","is_ca":false},{"name":"Martin Kircher","is_ca":false},{"name":"Alissa M. D’Gama","is_ca":false},{"name":"Jian Wang","is_ca":false},{"name":"Brenda J. Barry","is_ca":false},{"name":"Xiaochang Zhang","is_ca":false},{"name":"Robert Hill","is_ca":false},{"name":"Jennifer N. Partlow","is_ca":false},{"name":"Aldo Rozzo","is_ca":false},{"name":"Sarah Servattalab","is_ca":false},{"name":"Bhaven K. Mehta","is_ca":false},{"name":"Meral Topçu","is_ca":false},{"name":"Dina Amrom","is_ca":true},{"name":"Eva Andermann","is_ca":true},{"name":"Bernard Dan","is_ca":true},{"name":"Elena Parrini","is_ca":false},{"name":"Renzo Guerrini","is_ca":false},{"name":"Ingrid E. Scheffer","is_ca":true},{"name":"Samuel F. Berkovic","is_ca":true},{"name":"Richard J. Leventer","is_ca":false},{"name":"Yiping Shen","is_ca":false},{"name":"Bai Lin Wu","is_ca":false},{"name":"A. James Barkovich","is_ca":false},{"name":"Mustafa Şahin","is_ca":false},{"name":"Bernard S. Chang","is_ca":false},{"name":"Michael J. Bamshad","is_ca":false},{"name":"Deborah A. Nickerson","is_ca":false},{"name":"Jay Shendure","is_ca":false},{"name":"Annapurna Poduri","is_ca":false},{"name":"Timothy W. Yu","is_ca":false},{"name":"Christopher A. Walsh","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.007763776567543828,"gpt":0.2478435847449767,"spread":0.2400798081774329,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003001098,0.0003758138,0.0001636545,0.001167824,0.0002166104,0.0002501314,0.0002416448,0.0003101852,0.002083663],"category_scores_gemma":[0.00112431,0.0000940768,0.0001357999,0.0005066099,0.0003694617,0.00007016007,0.000366154,0.0002007142,0.0002444674],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003670298,"about_ca_system_score_gemma":0.000327133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001275488,"about_ca_topic_score_gemma":0.001773787,"domain_scores_codex":[0.9997267,0.00003003688,0.00002497217,0.00007734495,0.0001000101,0.00004091772],"domain_scores_gemma":[0.9996116,0.0001309548,0.0001381137,0.00002809138,0.00004793581,0.00004345231],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005067378,0.0001046417,0.6211463,0.0003647552,0.0002413559,0.02509406,0.0005177475,0.001901535,0.2923993,0.0009228417,0.0009323913,0.05586828],"study_design_scores_gemma":[0.00006244093,0.0002341726,0.7695772,0.0001129875,0.0002241066,0.09351758,0.0002311442,0.002145405,0.1283942,0.000775509,0.004701061,0.00002404449],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995953,0.0004550579,0.001279139,0.00003681646,0.000004056337,0.00002280379,0.0003936846,0.00004516172,0.001810364],"genre_scores_gemma":[0.998485,0.0001991657,0.0009307643,0.00002220088,0.000003990433,0.000005965424,0.0002352001,0.00000553259,0.0001121152],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002083663,"threshold_uncertainty_score":0.006970525,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2165800754","doi":"10.1111/cge.12654","title":"Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care","year":2015,"lang":"en","type":"review","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":392,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"McMaster University; Izaak Walton Killam Health Centre; University of Alberta; McGill Genome Centre; BC Children's Hospital; University of British Columbia; Children's Hospital of Eastern Ontario; University of Manitoba; Children's Hospital Research Institute of Manitoba; Manitoba Health; Ottawa Hospital; Centre Hospitalier Universitaire Sainte-Justine; SickKids Foundation; Université de Montréal; Western University; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; University of Toronto; Memorial University of Newfoundland; Montreal Neurological Institute and Hospital; Alberta Children's Hospital; University of Ottawa; McGill University; McGill University Health Centre; North York General Hospital; University of Calgary; Health Sciences Centre; University of Alberta Hospital; Montreal Children's Hospital; Mount Sinai Hospital","funders":"Institute of Genetics; University of Toronto; Genome British Columbia; Government of Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Exome sequencing; Exome; Genetics; Medicine; Computational biology; Biology; Bioinformatics; Mutation; Gene","authors":[{"name":"Sarah L. Sawyer","is_ca":true},{"name":"Taila Hartley","is_ca":true},{"name":"David A. Dyment","is_ca":true},{"name":"Chandree L. Beaulieu","is_ca":true},{"name":"Jeremy Schwartzentruber","is_ca":true},{"name":"Amanda Smith","is_ca":true},{"name":"H. Melanie Bedford","is_ca":true},{"name":"Geneviève Bernard","is_ca":true},{"name":"François P. Bernier","is_ca":true},{"name":"Bernard Brais","is_ca":true},{"name":"Dennis E. Bulman","is_ca":true},{"name":"Jodi Warman‐Chardon","is_ca":true},{"name":"David Chitayat","is_ca":true},{"name":"Johnny Deladoëy","is_ca":true},{"name":"Bridget A. Fernandez","is_ca":true},{"name":"Patrick Frosk","is_ca":true},{"name":"Michael T. Geraghty","is_ca":true},{"name":"Brenda Gerull","is_ca":true},{"name":"William T. Gibson","is_ca":true},{"name":"Robert M. Gow","is_ca":true},{"name":"Gail E. Graham","is_ca":true},{"name":"Jane S. Green","is_ca":true},{"name":"Elise Héon","is_ca":true},{"name":"Gabriella Horváth","is_ca":true},{"name":"A. Micheil Innes","is_ca":true},{"name":"Nada Jabado","is_ca":true},{"name":"Raymond H. Kim","is_ca":true},{"name":"R. K. Koenekoop","is_ca":true},{"name":"Aneal Khan","is_ca":true},{"name":"Ordan J. Lehmann","is_ca":true},{"name":"Roberto Mendoza‐Londono","is_ca":true},{"name":"Jacques L. Michaud","is_ca":true},{"name":"Sarah M. Nikkel","is_ca":true},{"name":"Lynette S. Penney","is_ca":true},{"name":"Constantin Polychronakos","is_ca":true},{"name":"Julie Richer","is_ca":true},{"name":"Guy A. Rouleau","is_ca":true},{"name":"Mark E. Samuels","is_ca":true},{"name":"Victoria Mok Siu","is_ca":true},{"name":"Oksana Suchowersky","is_ca":true},{"name":"Mark A. Tarnopolsky","is_ca":true},{"name":"Grace Yoon","is_ca":true},{"name":"Farah Zahir","is_ca":true},{"name":"Jacek Majewski","is_ca":true},{"name":"Kym M. Boycott","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1017547782742915,"gpt":0.406662459120225,"spread":0.3049076808459336,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002652193,0.0008784767,0.001806695,0.002558341,0.0003416776,0.001637375,0.001377697,0.001829932,0.003388237],"category_scores_gemma":[0.004662792,0.000322645,0.000801096,0.001963161,0.0007191693,0.002793,0.0010589,0.003481164,0.002007552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001226616,"about_ca_system_score_gemma":0.002291628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001804643,"about_ca_topic_score_gemma":0.003540109,"domain_scores_codex":[0.9994036,0.0001563182,0.00009234723,0.00009345968,0.0002047781,0.00004946226],"domain_scores_gemma":[0.9972104,0.001683601,0.0001964917,0.00007316286,0.0006452749,0.0001910528],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006737507,0.00002272865,0.0004020984,0.006962833,0.0001148978,0.0003617374,0.00006036571,0.0002605811,0.0003922665,0.00458334,0.06134371,0.9254282],"study_design_scores_gemma":[0.00002120255,0.00004182284,0.001285849,0.006739344,0.0001229316,0.002111618,0.0001120053,0.0001339101,0.0001955735,0.004997759,0.9842126,0.00002541725],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001124971,0.9951442,0.000470256,0.002686044,0.0005793477,0.000005700509,0.00004425968,0.0000167734,0.0009408699],"genre_scores_gemma":[0.0007306949,0.9961634,0.0007447357,0.00125957,0.0004514934,0.00001015285,0.00008609833,0.000006763593,0.0005471836],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003388237,"threshold_uncertainty_score":0.01402634,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W1764005853","doi":"10.1038/ng.3304","title":"Factors influencing success of clinical genome sequencing across a broad spectrum of disorders","year":2015,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":388,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children","funders":"Biotechnology and Biological Sciences Research Council; Medical Research Council; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; National Institute for Health and Care Research; Cancer Research UK; Action Medical Research; Academy of Medical Sciences; British Heart Foundation; Wellcome Trust","keywords":"Biology; Broad spectrum; Genetics; Computational biology; Genome; DNA sequencing; Evolutionary biology; Gene","authors":[{"name":"Jenny C. Taylor","is_ca":false},{"name":"Hilary C. Martin","is_ca":false},{"name":"Stefano Lise","is_ca":false},{"name":"John Broxholme","is_ca":false},{"name":"Jean‐Baptiste Cazier","is_ca":false},{"name":"Andy Rimmer","is_ca":false},{"name":"Alexander Kanapin","is_ca":false},{"name":"Gerton Lunter","is_ca":false},{"name":"Simon Fiddy","is_ca":false},{"name":"Chris Allan","is_ca":false},{"name":"A.R. Aricescu","is_ca":false},{"name":"Moustafa Attar","is_ca":false},{"name":"Christian Babbs","is_ca":false},{"name":"Jennifer Becq","is_ca":false},{"name":"David Beeson","is_ca":false},{"name":"Celeste Bento","is_ca":false},{"name":"P Bignell","is_ca":false},{"name":"Edward Blair","is_ca":false},{"name":"Veronica J. Buckle","is_ca":false},{"name":"Katherine R. Bull","is_ca":false},{"name":"Ondřej Cais","is_ca":false},{"name":"Holger Cario","is_ca":false},{"name":"Helen Chapel","is_ca":false},{"name":"Richard R. Copley","is_ca":false},{"name":"Richard J. Cornall","is_ca":false},{"name":"Jude Craft","is_ca":false},{"name":"Karin Dahan","is_ca":false},{"name":"Emma E. Davenport","is_ca":false},{"name":"Calliope A. Dendrou","is_ca":false},{"name":"Olivier Devuyst","is_ca":false},{"name":"Aimée L Fenwick","is_ca":false},{"name":"Jonathan Flint","is_ca":false},{"name":"Lars Fugger","is_ca":false},{"name":"Rodney D. Gilbert","is_ca":false},{"name":"Anne Goriely","is_ca":false},{"name":"Angie Green","is_ca":false},{"name":"Ingo H. Greger","is_ca":false},{"name":"Russell Grocock","is_ca":false},{"name":"Anja V. Gruszczyk","is_ca":false},{"name":"Robert Hastings","is_ca":false},{"name":"Edouard Hatton","is_ca":false},{"name":"Douglas R. Higgs","is_ca":false},{"name":"Adrian V. S. Hill","is_ca":false},{"name":"Chris Holmes","is_ca":false},{"name":"Malcolm F. Howard","is_ca":false},{"name":"Linda Hughes","is_ca":false},{"name":"Peter Humburg","is_ca":false},{"name":"David H. Johnson","is_ca":false},{"name":"Fredrik Karpe","is_ca":false},{"name":"Zoya Kingsbury","is_ca":false},{"name":"Usha Kini","is_ca":false},{"name":"Julian C. Knight","is_ca":false},{"name":"Jonathan Krohn","is_ca":false},{"name":"Sarah Lamble","is_ca":false},{"name":"Craig B. Langman","is_ca":false},{"name":"Lorne Lonie","is_ca":false},{"name":"Joshua Luck","is_ca":false},{"name":"Davis J. McCarthy","is_ca":false},{"name":"Simon J. McGowan","is_ca":false},{"name":"Mary Frances McMullin","is_ca":false},{"name":"Kerry A. Miller","is_ca":false},{"name":"Lisa Murray","is_ca":false},{"name":"Andrea H. Németh","is_ca":false},{"name":"M. Andrew Nesbit","is_ca":false},{"name":"David Nutt","is_ca":false},{"name":"Elizabeth Ormondroyd","is_ca":false},{"name":"Annette Oturai","is_ca":false},{"name":"Alistair T. Pagnamenta","is_ca":false},{"name":"Smita Y. Patel","is_ca":false},{"name":"Melanie J. Percy","is_ca":false},{"name":"Nayia Petousi","is_ca":false},{"name":"Paolo Piazza","is_ca":false},{"name":"Siân E. Piret","is_ca":false},{"name":"Guadalupe Polanco‐Echeverry","is_ca":false},{"name":"Niko Popitsch","is_ca":false},{"name":"Fiona Powrie","is_ca":false},{"name":"Christopher W. Pugh","is_ca":false},{"name":"Lynn Quek","is_ca":false},{"name":"Peter A. Robbins","is_ca":false},{"name":"Kathryn Robson","is_ca":false},{"name":"Alexandra Russo","is_ca":false},{"name":"Natasha Sahgal","is_ca":false},{"name":"Pauline A. van Schouwenburg","is_ca":false},{"name":"Anna Schuh","is_ca":false},{"name":"Earl D. Silverman","is_ca":true},{"name":"Alison Simmons","is_ca":false},{"name":"Per Soelberg Sørensen","is_ca":false},{"name":"Elizabeth Sweeney","is_ca":false},{"name":"John Taylor","is_ca":false},{"name":"Rajesh V. Thakker","is_ca":false},{"name":"Ian Tomlinson","is_ca":false},{"name":"Amy Trebes","is_ca":false},{"name":"Stephen R.F. Twigg","is_ca":false},{"name":"Holm H. Uhlig","is_ca":false},{"name":"Paresh Vyas","is_ca":false},{"name":"Tim J. Vyse","is_ca":false},{"name":"Steven A. Wall","is_ca":false},{"name":"Hugh Watkins","is_ca":false},{"name":"Michael P. Whyte","is_ca":false},{"name":"Lorna Witty","is_ca":false},{"name":"Christopher Yau","is_ca":false},{"name":"David Buck","is_ca":false},{"name":"Sean Humphray","is_ca":false},{"name":"Peter J. Ratcliffe","is_ca":false},{"name":"John I. Bell","is_ca":false},{"name":"Andrew O.M. Wilkie","is_ca":false},{"name":"David Bentley","is_ca":false},{"name":"Peter Donnelly","is_ca":false},{"name":"Gil McVean","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02789778997863111,"gpt":0.3399138015435763,"spread":0.3120160115649451,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.03332748,0.0002651148,0.0005151169,0.003154855,0.0010906,0.002588717,0.001504812,0.001379912,0.005852379],"category_scores_gemma":[0.1857171,0.0002751366,0.0004892601,0.002664172,0.001761074,0.002326241,0.002094858,0.001697036,0.0007656669],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009151294,"about_ca_system_score_gemma":0.001969981,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004227609,"about_ca_topic_score_gemma":0.007437372,"domain_scores_codex":[0.9764169,0.009869579,0.00370473,0.002283161,0.004363359,0.003362225],"domain_scores_gemma":[0.7304545,0.2078507,0.0224208,0.009261717,0.01547431,0.01453796],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005219914,0.0000911286,0.9683141,0.00007866032,0.0001967984,0.0007517827,0.001416227,0.0005829686,0.001599981,0.001024382,0.001449661,0.02397234],"study_design_scores_gemma":[0.00002802004,0.0003679814,0.9798816,0.0002879922,0.0001873704,0.004684649,0.003160917,0.002187339,0.001549455,0.002735598,0.004893244,0.00003580299],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9802914,0.002526298,0.002328879,0.005345324,0.0001014394,0.00004861223,0.0003690621,0.00005921671,0.008929877],"genre_scores_gemma":[0.9977486,0.0003324122,0.000945623,0.0004873555,0.00006891476,0.00001556938,0.0001344117,0.00005611515,0.0002110806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03332748,"threshold_uncertainty_score":0.1762546,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2138170649","doi":"10.1136/jmedgenet-2011-100223","title":"What can exome sequencing do for you?","year":2011,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":382,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Exome; Human genome; Personal genomics; DNA sequencing; Genome; Human genetics; Biology; Computational biology; Personalized medicine; Mendelian inheritance; Genetics; Data science; Computer science; Gene; Mutation","authors":[{"name":"Jacek Majewski","is_ca":true},{"name":"Jeremy Schwartzentruber","is_ca":true},{"name":"Emilie Lalonde","is_ca":true},{"name":"Alexandre Montpetit","is_ca":true},{"name":"Nada Jabado","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06384831906300094,"gpt":0.3476388436216152,"spread":0.2837905245586143,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003496831,0.001460108,0.002256536,0.002188634,0.0006041532,0.00237088,0.001414982,0.004467695,0.004617243],"category_scores_gemma":[0.006082104,0.0003784526,0.0009118679,0.001561534,0.00200967,0.006589722,0.001199597,0.00439878,0.003425306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009597748,"about_ca_system_score_gemma":0.001312941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001283746,"about_ca_topic_score_gemma":0.001519911,"domain_scores_codex":[0.9992816,0.0002482454,0.00008352757,0.00011611,0.0002222638,0.00004829933],"domain_scores_gemma":[0.9966679,0.002335257,0.0001431575,0.00009427535,0.0005335183,0.0002259058],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00008350728,0.00003764277,0.0003409318,0.0051968,0.00008670674,0.0003576704,0.0000927561,0.0002857095,0.0003757295,0.01071535,0.08103277,0.9013943],"study_design_scores_gemma":[0.00002958534,0.00008408586,0.0008814611,0.007133336,0.00007183499,0.00232674,0.0002364994,0.0001736267,0.0002743446,0.02701875,0.9617133,0.00005632421],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00008575782,0.9801748,0.0008141653,0.01508625,0.001991093,0.00001003606,0.00003038484,0.00002453851,0.001782981],"genre_scores_gemma":[0.0005940858,0.9917575,0.00109592,0.003801696,0.001664874,0.00001733074,0.00003194348,0.000005416709,0.001031141],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004617243,"threshold_uncertainty_score":0.01849318,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2098207011","doi":"10.1016/j.ajhg.2009.06.022","title":"Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine","year":2009,"lang":"en","type":"review","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":381,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Child and Family Research Institute; BC Cancer Agency; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Massive parallel sequencing; Massively parallel; Sanger sequencing; Computer science; DNA sequencing; Personal genomics; Genomics; Computational biology; Biology; Genetics; Genome; Parallel computing; Gene","authors":[{"name":"Tracy Tucker","is_ca":true},{"name":"Marco A. Marra","is_ca":true},{"name":"Jan M. Friedman","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.07029077671750361,"gpt":0.3345144717670009,"spread":0.2642236950494973,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002982092,0.001643884,0.002800872,0.00197635,0.000361374,0.001377615,0.002593198,0.002856807,0.003537177],"category_scores_gemma":[0.003049951,0.0005590877,0.0007694777,0.002442309,0.001650821,0.002707296,0.001420302,0.005418128,0.003108914],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001201433,"about_ca_system_score_gemma":0.001644822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001524828,"about_ca_topic_score_gemma":0.002098248,"domain_scores_codex":[0.9990692,0.000222225,0.00007687542,0.000124129,0.0004488742,0.00005883185],"domain_scores_gemma":[0.9971902,0.001558873,0.0001860425,0.00008011347,0.0005732213,0.0004116462],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001655153,0.00008139126,0.0001784713,0.003696044,0.0001446016,0.0001499927,0.00002032813,0.0007092638,0.001231332,0.005629302,0.1070744,0.8809193],"study_design_scores_gemma":[0.0001252173,0.0001513294,0.0007847628,0.001780232,0.000145533,0.001335082,0.0000405471,0.0009772714,0.0009497669,0.01224568,0.9814034,0.00006125389],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001283149,0.9878229,0.003342915,0.004714634,0.002623738,0.00001860171,0.00005917942,0.00008958393,0.00120007],"genre_scores_gemma":[0.001211262,0.9866304,0.004083632,0.003597013,0.003005187,0.00002814731,0.0001397228,0.00001445743,0.001290204],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003537177,"threshold_uncertainty_score":0.01577103,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2233252933","doi":"10.1038/npjgenmed.2015.12","title":"Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine","year":2016,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":377,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Mount Sinai Hospital; Institute for Clinical Evaluative Sciences; University of Toronto; SickKids Foundation; Hospital for Sick Children; Public Health Ontario","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; University of Toronto; Genome Canada; GlaxoSmithKline","keywords":"Indel; Whole genome sequencing; Copy-number variation; Genetic testing; Genetics; Medical genetics; DNA sequencing; Missense mutation; Human genetics; Biology; Medicine; Mutation; Gene; Bioinformatics; Genome; Computational biology; Single-nucleotide polymorphism; Genotype","authors":[{"name":"Dimitri J. Stavropoulos","is_ca":true},{"name":"Daniele Merico","is_ca":true},{"name":"Rebekah Jobling","is_ca":true},{"name":"Sarah Bowdin","is_ca":true},{"name":"Nasim Monfared","is_ca":true},{"name":"Bhooma Thiruvahindrapuram","is_ca":true},{"name":"Thomas Nalpathamkalam","is_ca":true},{"name":"Giovanna Pellecchia","is_ca":true},{"name":"Ryan K. C. Yuen","is_ca":true},{"name":"Michael J. Szego","is_ca":true},{"name":"Robin Z. Hayeems","is_ca":true},{"name":"Randi Zlotnik Shaul","is_ca":true},{"name":"Michael Brudno","is_ca":true},{"name":"Marta Gîrdea","is_ca":true},{"name":"Brendan J. Frey","is_ca":true},{"name":"Babak Alipanahi","is_ca":true},{"name":"Sohnee Ahmed","is_ca":true},{"name":"Riyana Babul‐Hirji","is_ca":true},{"name":"Ramses Badilla Porras","is_ca":true},{"name":"Melissa T. Carter","is_ca":true},{"name":"Lauren Chad","is_ca":true},{"name":"Ayeshah Chaudhry","is_ca":true},{"name":"David Chitayat","is_ca":true},{"name":"Soghra Jougheh Doust","is_ca":true},{"name":"Cheryl Cytrynbaum","is_ca":true},{"name":"Lucie Dupuis","is_ca":true},{"name":"Resham Ejaz","is_ca":true},{"name":"Leona Fishman","is_ca":true},{"name":"Andrea Guerin","is_ca":true},{"name":"Bita Hashemi","is_ca":true},{"name":"Mayada Helal","is_ca":true},{"name":"Stacy Hewson","is_ca":true},{"name":"Michal Inbar‐Feigenberg","is_ca":true},{"name":"Pekka Kannus","is_ca":true},{"name":"Natalya Karp","is_ca":true},{"name":"Raymond H. Kim","is_ca":true},{"name":"Jonathan B. Kronick","is_ca":true},{"name":"Eriskay Liston","is_ca":true},{"name":"H. Robson MacDonald","is_ca":true},{"name":"Saadet Mercimek‐Mahmutoglu","is_ca":true},{"name":"Roberto Mendoza‐Londono","is_ca":true},{"name":"Enas Nasr","is_ca":true},{"name":"Graeme Nimmo","is_ca":true},{"name":"Nicole Parkinson","is_ca":true},{"name":"Nada Quercia","is_ca":true},{"name":"Julian Raiman","is_ca":true},{"name":"Maian Roifman","is_ca":true},{"name":"Andreas Schulze","is_ca":true},{"name":"Andrea Shugar","is_ca":true},{"name":"Cheryl Shuman","is_ca":true},{"name":"Pierre Sinajon","is_ca":true},{"name":"Komudi Siriwardena","is_ca":true},{"name":"Rosanna Weksberg","is_ca":true},{"name":"Grace Yoon","is_ca":true},{"name":"Chris Carew","is_ca":true},{"name":"Raith Erickson","is_ca":false},{"name":"Richard A. Leach","is_ca":false},{"name":"Robert J. Klein","is_ca":false},{"name":"Peter N. Ray","is_ca":true},{"name":"M. Stephen Meyn","is_ca":true},{"name":"Stephen W. Scherer","is_ca":true},{"name":"Ronald D. Cohn","is_ca":true},{"name":"Christian R. Marshall","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02208723545716237,"gpt":0.2907988927803203,"spread":0.2687116573231579,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006245996,0.0006943832,0.0008306235,0.001952775,0.0002411344,0.00142132,0.0006357669,0.001148187,0.005554598],"category_scores_gemma":[0.01887814,0.0003760321,0.0004771579,0.001419617,0.0007538652,0.001557315,0.001231127,0.0009315569,0.001765634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004601793,"about_ca_system_score_gemma":0.0007251612,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008106843,"about_ca_topic_score_gemma":0.0009027352,"domain_scores_codex":[0.9963273,0.002227745,0.0002315231,0.0005085312,0.0005849687,0.0001199386],"domain_scores_gemma":[0.9896445,0.006611921,0.001077323,0.0008949192,0.001363278,0.0004079957],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0006495762,0.0001989185,0.3023497,0.0009713222,0.0001829204,0.001981623,0.0004423264,0.002083045,0.01552111,0.002892671,0.01483085,0.6578959],"study_design_scores_gemma":[0.0001552986,0.0009467506,0.8292538,0.001415741,0.0004080916,0.02569981,0.0007292472,0.01484783,0.01339598,0.01534334,0.09767088,0.0001332143],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6361877,0.09693033,0.1850854,0.02521092,0.001185415,0.0005198955,0.007865512,0.004339393,0.04267539],"genre_scores_gemma":[0.8457091,0.03209803,0.1105951,0.003820538,0.001332312,0.0001941505,0.003276862,0.0004625407,0.002511309],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006245996,"threshold_uncertainty_score":0.03303242,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4388616071","doi":"10.1093/nar/gkad1005","title":"The Human Phenotype Ontology in 2024: phenotypes around the world","year":2023,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":375,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; Centre for Addiction and Mental Health; University of British Columbia; University of Toronto; Dalhousie University; Shriners Hospitals for Children - Canada; Simon Fraser University","funders":"National Institute of Dental and Craniofacial Research; National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; U.S. National Library of Medicine; Defense Advanced Research Projects Agency; McCusker Charitable Foundation; National Institutes of Health; Deutsche Forschungsgemeinschaft; Angela Wright Bennett Foundation; Berlin Institute of Health; National Center for Advancing Translational Sciences; National Human Genome Research Institute; Wellcome Trust; National Cancer Institute; British Heart Foundation; National Institute on Aging; Horizon 2020 Framework Programme; Eunice Kennedy Shriver National Institute of Child Health and Human Development; U.S. Department of Energy","keywords":"Ontology; Clinical phenotype; Biology; Inference; Phenotype; Data science; Disease; Analytics; Computer science; Computational biology; Bioinformatics; Artificial intelligence; Gene; Genetics; Medicine; Pathology","authors":[{"name":"Michael Gargano","is_ca":false},{"name":"Nicolas Matentzoglu","is_ca":false},{"name":"Ben Coleman","is_ca":false},{"name":"Eunice B Addo-Lartey","is_ca":false},{"name":"Anna V. Anagnostopoulos","is_ca":false},{"name":"Joel Anderton","is_ca":false},{"name":"Paul Avillach","is_ca":false},{"name":"Anita Bagley","is_ca":false},{"name":"Eduard Bakštein","is_ca":false},{"name":"James P. Balhoff","is_ca":false},{"name":"Gareth Baynam","is_ca":false},{"name":"Susan M. Bello","is_ca":false},{"name":"Michael Berk","is_ca":false},{"name":"Holli Bertram","is_ca":false},{"name":"Somer Bishop","is_ca":false},{"name":"Hannah Blau","is_ca":false},{"name":"David F. Bodenstein","is_ca":true},{"name":"Pablo Botas","is_ca":false},{"name":"Kaan Boztuǧ","is_ca":false},{"name":"J Cady","is_ca":false},{"name":"Tiffany J. Callahan","is_ca":false},{"name":"Rhiannon Cameron","is_ca":true},{"name":"Seth Carbon","is_ca":false},{"name":"F Castellanos","is_ca":false},{"name":"J. Harry Caufield","is_ca":false},{"name":"Lauren Chan","is_ca":false},{"name":"Christopher G. Chute","is_ca":false},{"name":"Noémi Dahan‐Oliel","is_ca":true},{"name":"Jon R. Davids","is_ca":false},{"name":"Maud de Dieuleveult","is_ca":false},{"name":"Vinícius de Souza","is_ca":false},{"name":"Bert B.A. de Vries","is_ca":false},{"name":"Esther de Vries","is_ca":false},{"name":"J. Raymond DePaulo","is_ca":false},{"name":"Beáta Dérfalvi","is_ca":true},{"name":"Ferdinand Dhombres","is_ca":false},{"name":"Claudia Diaz‐Byrd","is_ca":false},{"name":"Alexander J.M. Dingemans","is_ca":false},{"name":"Bruno Donadille","is_ca":false},{"name":"Michael Duyzend","is_ca":false},{"name":"Reem Elfeky","is_ca":false},{"name":"Shahim Essaid","is_ca":false},{"name":"Carolina Fabrizzi","is_ca":false},{"name":"Giovanna Fico","is_ca":false},{"name":"Helen V. Firth","is_ca":false},{"name":"Yun Freudenberg‐Hua","is_ca":false},{"name":"Janice M. Fullerton","is_ca":false},{"name":"Davera Gabriel","is_ca":false},{"name":"Kimberly Gilmour","is_ca":false},{"name":"Jessica L. Giordano","is_ca":false},{"name":"Fernando S. Goes","is_ca":false},{"name":"Rachel Gore Moses","is_ca":false},{"name":"Ian Green","is_ca":false},{"name":"Matthias Griese","is_ca":false},{"name":"Tudor Groza","is_ca":false},{"name":"Weihong Gu","is_ca":false},{"name":"Julia Guthrie","is_ca":false},{"name":"Benjamin M. Gyori","is_ca":false},{"name":"Ada Hamosh","is_ca":false},{"name":"Marc Hanauer","is_ca":false},{"name":"Kateřina Hanušová","is_ca":false},{"name":"Yongqun He","is_ca":false},{"name":"Harshad Hegde","is_ca":false},{"name":"Ingo Helbig","is_ca":false},{"name":"Kateřina Holasová","is_ca":false},{"name":"Charles Tapley Hoyt","is_ca":false},{"name":"Shangzhi Huang","is_ca":false},{"name":"Eric Hurwitz","is_ca":false},{"name":"Julius O.B. Jacobsen","is_ca":false},{"name":"Xiaofeng Jiang","is_ca":false},{"name":"Lisa Joseph","is_ca":false},{"name":"Kamyar Keramatian","is_ca":true},{"name":"Bryan King","is_ca":false},{"name":"Katrin Knoflach","is_ca":false},{"name":"David A. Koolen","is_ca":false},{"name":"Megan L Kraus","is_ca":false},{"name":"Carlo Kroll","is_ca":false},{"name":"Maaike Kusters","is_ca":false},{"name":"Markus S. Ladewig","is_ca":false},{"name":"David Lagorce","is_ca":false},{"name":"Meng‐Chuan Lai","is_ca":true},{"name":"Pablo Lapunzina","is_ca":false},{"name":"Bryan Laraway","is_ca":false},{"name":"David Lewis‐Smith","is_ca":false},{"name":"Xiarong Li","is_ca":false},{"name":"Caterina Lucano","is_ca":false},{"name":"Marzieh Majd","is_ca":false},{"name":"Mary L. Marazita","is_ca":false},{"name":"Víctor Martínez‐Glez","is_ca":false},{"name":"Toby H McHenry","is_ca":false},{"name":"Melvin G. McInnis","is_ca":false},{"name":"Julie A. McMurry","is_ca":false},{"name":"Michaela Mihulová","is_ca":false},{"name":"Caitlin E. Millett","is_ca":false},{"name":"Philip B. Mitchell","is_ca":false},{"name":"Veronika Moslerová","is_ca":false},{"name":"Kenji Narutomi","is_ca":false},{"name":"Shahrzad Nematollahi","is_ca":true},{"name":"Julián Nevado","is_ca":false},{"name":"Andrew A. Nierenberg","is_ca":false},{"name":"Nikola Novák Čajbiková","is_ca":false},{"name":"John I. Nürnberger","is_ca":false},{"name":"Soichi Ogishima","is_ca":false},{"name":"Daniel Olson","is_ca":false},{"name":"Abigail Ortiz","is_ca":true},{"name":"Harry Pachajoa","is_ca":false},{"name":"Guiomar Pérez de Nanclares","is_ca":false},{"name":"Amy T. Peters","is_ca":false},{"name":"Tim Putman","is_ca":false},{"name":"Christina Rapp","is_ca":false},{"name":"Ana Rath","is_ca":false},{"name":"Justin Reese","is_ca":false},{"name":"Lauren Rekerle","is_ca":false},{"name":"Angharad M. Roberts","is_ca":false},{"name":"Suzy Roy","is_ca":false},{"name":"Stephan Sanders","is_ca":false},{"name":"Catharina Schuetz","is_ca":false},{"name":"Eva C. Schulte","is_ca":false},{"name":"Thomas G. Schulze","is_ca":false},{"name":"Martin Schwarz","is_ca":false},{"name":"Katie Scott","is_ca":true},{"name":"Dominik Seelow","is_ca":false},{"name":"Berthold Seitz","is_ca":false},{"name":"Yiping Shen","is_ca":false},{"name":"Morgan Similuk","is_ca":false},{"name":"Eric S. Simon","is_ca":false},{"name":"Balwinder Singh","is_ca":false},{"name":"Damian Smedley","is_ca":false},{"name":"Cynthia L. Smith","is_ca":false},{"name":"Jake T Smolinsky","is_ca":false},{"name":"Sarah H. Sperry","is_ca":false},{"name":"Elizabeth Stafford","is_ca":false},{"name":"Ray Stefancsik","is_ca":false},{"name":"Robin Steinhaus","is_ca":false},{"name":"Rebecca Strawbridge","is_ca":false},{"name":"Jagadish Chandrabose Sundaramurthi","is_ca":false},{"name":"Polina Talapova","is_ca":false},{"name":"Jair Tenorio","is_ca":false},{"name":"Pavel Tesner","is_ca":false},{"name":"Rhys H. Thomas","is_ca":false},{"name":"Audrey Thurm","is_ca":false},{"name":"Marek Turnovec","is_ca":false},{"name":"Mariëlle van Gijn","is_ca":false},{"name":"Nicole Vasilevsky","is_ca":false},{"name":"Markéta Vlčková","is_ca":false},{"name":"Anita Walden","is_ca":false},{"name":"Kai Wang","is_ca":false},{"name":"Ronald J. Wapner","is_ca":false},{"name":"James S. Ware","is_ca":false},{"name":"Addo A Wiafe","is_ca":false},{"name":"Samuel Agyei Wiafe","is_ca":false},{"name":"Lisa D. Wiggins","is_ca":false},{"name":"Andrew E. Williams","is_ca":false},{"name":"Chen Wu","is_ca":false},{"name":"Margot J. Wyrwoll","is_ca":false},{"name":"Hui Xiong","is_ca":false},{"name":"Nefize Yalın","is_ca":false},{"name":"Yasunori Yamamoto","is_ca":false},{"name":"Lakshmi N. Yatham","is_ca":true},{"name":"Anastasia K. Yocum","is_ca":false},{"name":"Allan H. Young","is_ca":false},{"name":"Zafer Yüksel","is_ca":false},{"name":"Peter P. Zandi","is_ca":false},{"name":"Andreas Zankl","is_ca":false},{"name":"Ignacio Zarante","is_ca":false},{"name":"Miroslav Zvolský","is_ca":false},{"name":"Sabrina Toro","is_ca":false},{"name":"Leigh Carmody","is_ca":false},{"name":"Nomi L. Harris","is_ca":false},{"name":"Mónica Muñoz-Torres","is_ca":false},{"name":"Daniel Daniš","is_ca":false},{"name":"Chris Mungall","is_ca":false},{"name":"Sebastian Köhler","is_ca":false},{"name":"Melissa Haendel","is_ca":false},{"name":"Peter N. Robinson","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04171781329928882,"gpt":0.357094743870022,"spread":0.3153769305707332,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002407877,0.001172698,0.0006199625,0.006723932,0.001384613,0.003000858,0.001289008,0.001895045,0.01657821],"category_scores_gemma":[0.006433894,0.0005936213,0.001568527,0.009112913,0.00107553,0.00540037,0.003931637,0.002578529,0.007962895],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002547484,"about_ca_system_score_gemma":0.006415896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02664302,"about_ca_topic_score_gemma":0.02109572,"domain_scores_codex":[0.9984724,0.0004040085,0.0003292067,0.0002753806,0.0003903311,0.0001286632],"domain_scores_gemma":[0.9974211,0.001027289,0.0002916683,0.0004568181,0.0005356166,0.0002673955],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002092382,0.00007703581,0.005048977,0.002196874,0.0001003429,0.001084012,0.002487812,0.003017695,0.002761546,0.3114771,0.5499159,0.1216236],"study_design_scores_gemma":[0.00001876968,0.000009180077,0.001711272,0.0003484089,0.00002301535,0.0004237587,0.0003109307,0.0008950795,0.0002798548,0.02566892,0.9702845,0.00002634247],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.01139532,0.004784405,0.300927,0.01386804,0.0030542,0.001175521,0.5235079,0.01990604,0.1213817],"genre_scores_gemma":[0.047146,0.008965795,0.2673992,0.006352501,0.0005856119,0.002124674,0.6413373,0.004211997,0.02187694],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.02664302,"threshold_uncertainty_score":0.05545968,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2948477377","doi":"10.1038/s41591-019-0457-8","title":"Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts","year":2019,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":355,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Ottawa; Newborn Screening Ontario; Children's Hospital of Eastern Ontario","funders":"U.S. National Library of Medicine; National Human Genome Research Institute; National Institutes of Health","keywords":"Exome sequencing; Transcriptome; RNA-Seq; Disease; Biology; Exome; Gene; Molecular diagnostics; Genetics; RNA; Phenotype; False discovery rate; Computational biology; Bioinformatics; Medicine; Gene expression; Internal medicine","authors":[{"name":"Laure Frésard","is_ca":false},{"name":"Craig Smail","is_ca":false},{"name":"Nicole M. Ferraro","is_ca":false},{"name":"Nicole A. Teran","is_ca":false},{"name":"Xin Li","is_ca":false},{"name":"Kevin S. Smith","is_ca":false},{"name":"Devon Bonner","is_ca":true},{"name":"Kristin D. Kernohan","is_ca":true},{"name":"Shruti Marwaha","is_ca":false},{"name":"Zachary Zappala","is_ca":false},{"name":"Brunilda Balliu","is_ca":false},{"name":"Joe R. Davis","is_ca":false},{"name":"Boxiang Liu","is_ca":false},{"name":"Cameron J. Prybol","is_ca":false},{"name":"Jennefer N. Kohler","is_ca":false},{"name":"Diane B. Zastrow","is_ca":false},{"name":"Chloe M. Reuter","is_ca":false},{"name":"Dianna G. Fisk","is_ca":false},{"name":"Megan E. Grove","is_ca":false},{"name":"Jean M. Davidson","is_ca":true},{"name":"Taila Hartley","is_ca":true},{"name":"Ruchi Joshi","is_ca":false},{"name":"Benjamin J. Strober","is_ca":false},{"name":"Sowmithri Utiramerur","is_ca":false},{"name":"Lars Lind","is_ca":false},{"name":"Erik Ingelsson","is_ca":false},{"name":"Alexis Battle","is_ca":false},{"name":"Gill Bejerano","is_ca":false},{"name":"Jonathan A. Bernstein","is_ca":false},{"name":"Euan A. Ashley","is_ca":true},{"name":"Kym M. Boycott","is_ca":true},{"name":"Jason D. Merker","is_ca":false},{"name":"Matthew T. Wheeler","is_ca":false},{"name":"Stephen B. Montgomery","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.004510163611937029,"gpt":0.2419988206626428,"spread":0.2374886570507057,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002505833,0.0007126759,0.0006961783,0.001545564,0.0009051696,0.001863497,0.0007607007,0.0009202922,0.002806115],"category_scores_gemma":[0.00499553,0.0003946044,0.0008898375,0.001281041,0.0006502306,0.0003765968,0.000811941,0.000899497,0.0004209376],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004215038,"about_ca_system_score_gemma":0.0006376283,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004551086,"about_ca_topic_score_gemma":0.006314332,"domain_scores_codex":[0.9977931,0.0004894443,0.0001576572,0.001000178,0.0003592899,0.0002003258],"domain_scores_gemma":[0.997977,0.0009132203,0.000355986,0.0004147187,0.0001717666,0.0001673906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005372936,0.0005534239,0.5676593,0.0005132064,0.004051773,0.004464072,0.002223689,0.005681705,0.3089509,0.007595677,0.01009481,0.08283849],"study_design_scores_gemma":[0.001174961,0.0007311304,0.8970432,0.0002159213,0.003066069,0.005990465,0.0006373223,0.01630989,0.03651191,0.008717887,0.02944713,0.0001540335],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9524253,0.001074912,0.03639029,0.0004328817,0.0001246519,0.0001150293,0.007344536,0.0003221896,0.001770198],"genre_scores_gemma":[0.9808409,0.0004360963,0.01076578,0.0004309051,0.00008668825,0.0001947601,0.005914042,0.0002059365,0.001124918],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004551086,"threshold_uncertainty_score":0.01325232,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2046421695","doi":"10.1038/gim.2014.191","title":"Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios","year":2015,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":342,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University","funders":"National Institute of Allergy and Infectious Diseases; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institute on Aging; U.S. Public Health Service","keywords":"Exome sequencing; Genetics; Exome; In silico; Biology; Gene; Genotype-phenotype distinction; Genotype; Disease; Phenotype; Candidate gene; Population; DNA sequencing; Computational biology; Bioinformatics; Medicine; Pathology","authors":[{"name":"Xiaolin Zhu","is_ca":false},{"name":"Slavé Petrovski","is_ca":false},{"name":"Pingxing Xie","is_ca":true},{"name":"Elizabeth K. Ruzzo","is_ca":false},{"name":"Yifan Lu","is_ca":false},{"name":"K. Melodi McSweeney","is_ca":false},{"name":"Bruria Ben‐Zeev","is_ca":false},{"name":"Andreea Nissenkorn","is_ca":false},{"name":"Yair Anikster","is_ca":false},{"name":"Danit Oz-Levi","is_ca":false},{"name":"Ryan S. Dhindsa","is_ca":false},{"name":"Yuki Hitomi","is_ca":false},{"name":"Kelly Schoch","is_ca":false},{"name":"Rebecca C. Spillmann","is_ca":false},{"name":"Gali Heimer","is_ca":false},{"name":"Dina Marek‐Yagel","is_ca":false},{"name":"Michal Tzadok","is_ca":false},{"name":"Yujun Han","is_ca":false},{"name":"Gordon Worley","is_ca":false},{"name":"Jennifer Goldstein","is_ca":false},{"name":"Yong‐hui Jiang","is_ca":false},{"name":"Doron Lancet","is_ca":false},{"name":"Elon Pras","is_ca":false},{"name":"Vandana Shashi","is_ca":false},{"name":"Duncan McHale","is_ca":false},{"name":"Anna C. Need","is_ca":false},{"name":"David B. Goldstein","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02448186894664766,"gpt":0.2921852440222767,"spread":0.2677033750756291,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001118992,0.0004056977,0.0004201989,0.001948693,0.0007151446,0.0008611169,0.0003486428,0.0005026605,0.001734542],"category_scores_gemma":[0.003617959,0.0001783594,0.0003378562,0.00122834,0.0005119904,0.0003248871,0.001017127,0.0004184315,0.0005650556],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002668102,"about_ca_system_score_gemma":0.0003833477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001075721,"about_ca_topic_score_gemma":0.001778537,"domain_scores_codex":[0.9990873,0.0002221019,0.0001634254,0.0002434216,0.0001867028,0.0000969852],"domain_scores_gemma":[0.9982845,0.0008282187,0.0003311649,0.0002067805,0.0001767817,0.0001724264],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006158391,0.00008717728,0.9421341,0.00007385605,0.000094339,0.01415456,0.0006832865,0.0004491559,0.02295799,0.0002855033,0.0008232173,0.01764086],"study_design_scores_gemma":[0.00007679148,0.0003927761,0.9116486,0.00008989931,0.0003414431,0.05695229,0.001853222,0.004703979,0.01629433,0.002044958,0.005562401,0.0000392792],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967018,0.0002322673,0.001676128,0.00006830692,0.00001159039,0.00003098566,0.0006225222,0.00002222464,0.0006340691],"genre_scores_gemma":[0.995358,0.0002587169,0.002777679,0.0001006774,0.00001624697,0.00002307399,0.00125587,0.00002529402,0.0001842984],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001948693,"threshold_uncertainty_score":0.005917847,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3045929934","doi":"10.1002/humu.24088","title":"Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines","year":2020,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":333,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Cancer Institute; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Bayesian probability; Mendelian inheritance; Medical genetics; Mendelian randomization; Odds; Biology; Genomics; Bayes' theorem; Computer science; Computational biology; Point (geometry); Bioinformatics; Genetics; Artificial intelligence; Machine learning; Genome; Mathematics; Gene; Genetic variants","authors":[{"name":"Sean V. Tavtigian","is_ca":false},{"name":"Steven M. Harrison","is_ca":false},{"name":"Kenneth M. Boucher","is_ca":false},{"name":"Leslie G. Biesecker","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04871119145603892,"gpt":0.306433194511587,"spread":0.2577220030555481,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.015296,0.0006680326,0.001016704,0.002887189,0.001174838,0.005186831,0.002234692,0.00240398,0.01464579],"category_scores_gemma":[0.08345704,0.0006994398,0.001334171,0.002687615,0.001846385,0.003444405,0.003514607,0.003045363,0.004620994],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001977253,"about_ca_system_score_gemma":0.002390858,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007494603,"about_ca_topic_score_gemma":0.006312758,"domain_scores_codex":[0.9898045,0.005321258,0.0009169864,0.001514211,0.00210962,0.000333522],"domain_scores_gemma":[0.9698629,0.01804366,0.001853116,0.002729619,0.006936507,0.0005742346],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0004323943,0.00012249,0.01890826,0.0005891846,0.0002273896,0.0006535326,0.002141239,0.09020673,0.003090924,0.4373635,0.04442655,0.4018378],"study_design_scores_gemma":[0.000143793,0.0001887298,0.005172557,0.0002790376,0.0001063109,0.0006432303,0.0005283394,0.3866346,0.002138012,0.5507955,0.05321109,0.0001587763],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.009797716,0.0001544618,0.9787995,0.001975333,0.0001695234,0.0003231299,0.001225239,0.001219282,0.006335785],"genre_scores_gemma":[0.1531143,0.000155247,0.8398768,0.0007160955,0.0001373433,0.0007154627,0.00104657,0.0003395757,0.003898538],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.015296,"threshold_uncertainty_score":0.08089393,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2326403029","doi":"10.1038/nbt.3514","title":"Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases","year":2016,"lang":"en","type":"article","venue":"Nature Biotechnology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":320,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Ontario Institute for Cancer Research","funders":"","keywords":"Mendelian inheritance; Penetrance; Disease; Genetics; Biology; Identification (biology); Penetrant (biochemical); Gene; Genome; Medicine; Phenotype; Pathology","authors":[{"name":"Rong Chen","is_ca":false},{"name":"Lisong Shi","is_ca":false},{"name":"Jörg Hakenberg","is_ca":false},{"name":"Brian Naughton","is_ca":false},{"name":"Pamela Sklar","is_ca":false},{"name":"Jianguo Zhang","is_ca":false},{"name":"Hanlin Zhou","is_ca":false},{"name":"Lifeng Tian","is_ca":false},{"name":"Om Prakash","is_ca":false},{"name":"Mathieu Lemire","is_ca":true},{"name":"Patrick Sleiman","is_ca":false},{"name":"Wei‐Yi Cheng","is_ca":false},{"name":"Wanting Chen","is_ca":false},{"name":"Hardik Shah","is_ca":false},{"name":"Yulan Shen","is_ca":false},{"name":"Menachem Fromer","is_ca":false},{"name":"Larsson Omberg","is_ca":false},{"name":"Matthew A. Deardorff","is_ca":false},{"name":"Elaine H. Zackai","is_ca":false},{"name":"Jason Bobe","is_ca":false},{"name":"Elissa Levin","is_ca":false},{"name":"Thomas J. Hudson","is_ca":true},{"name":"Leif Groop","is_ca":false},{"name":"Jun Wang","is_ca":false},{"name":"Håkon Håkonarson","is_ca":false},{"name":"Anne Wojcicki","is_ca":false},{"name":"George A. Díaz","is_ca":false},{"name":"Lisa Edelmann","is_ca":false},{"name":"Eric E. Schadt","is_ca":false},{"name":"Stephen Friend","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.002740527233638351,"gpt":0.2290719746524302,"spread":0.2263314474187918,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003033995,0.0003910003,0.0004823147,0.001420747,0.0007681714,0.0005789092,0.0003567388,0.0005827428,0.002132509],"category_scores_gemma":[0.001612997,0.0002133535,0.0005056609,0.00199567,0.0004146009,0.0002144426,0.0008006105,0.000424819,0.0002529728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001907755,"about_ca_system_score_gemma":0.0003109696,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003263426,"about_ca_topic_score_gemma":0.004383662,"domain_scores_codex":[0.9995095,0.00007827138,0.00004154453,0.0001947258,0.00006874619,0.0001071946],"domain_scores_gemma":[0.9992542,0.0003100773,0.0002126546,0.00007478501,0.00004249004,0.0001057748],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001940819,0.00008841746,0.9195199,0.0001800887,0.0006410858,0.002417173,0.001232281,0.0005781899,0.05159175,0.0005985186,0.001298929,0.01991287],"study_design_scores_gemma":[0.00002523385,0.0001164137,0.9928218,0.00002460602,0.0002170746,0.001828051,0.0004916429,0.0002097832,0.001709311,0.0002976444,0.002244477,0.00001402038],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972385,0.0001983241,0.0001248978,0.00005618947,0.00000422801,0.000003749741,0.00203233,0.000008305474,0.0003334459],"genre_scores_gemma":[0.9966555,0.0001700305,0.0004078776,0.00006060079,0.000007040876,0.000007146067,0.002402088,0.00001042684,0.0002792921],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003263426,"threshold_uncertainty_score":0.007133961,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2110747516","doi":"10.1038/ng.653","title":"Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome","year":2010,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":300,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Exome sequencing; Biology; Exome; Genetics; Mutation; Gene","authors":[{"name":"Peter Krawitz","is_ca":false},{"name":"Michal R. Schweiger","is_ca":false},{"name":"Christian Rödelsperger","is_ca":false},{"name":"Carlo Marcelis","is_ca":false},{"name":"Uwe Kölsch","is_ca":false},{"name":"Christian Meisel","is_ca":false},{"name":"Friederike Stephani","is_ca":false},{"name":"Taroh Kinoshita","is_ca":false},{"name":"Yoshiko Murakami","is_ca":false},{"name":"Sebastian Bauer","is_ca":false},{"name":"Melanie Isau","is_ca":false},{"name":"Axel Fischer","is_ca":false},{"name":"Andreas Dahl","is_ca":false},{"name":"Martin Kerick","is_ca":false},{"name":"Jochen Hecht","is_ca":false},{"name":"Sebastian Köhler","is_ca":false},{"name":"Marten Jäger","is_ca":false},{"name":"Johannes Grünhagen","is_ca":false},{"name":"Birgit Jonske de Condor","is_ca":false},{"name":"Sandra C. Doelken","is_ca":false},{"name":"Han G. Brunner","is_ca":false},{"name":"Peter Meinecke","is_ca":false},{"name":"Eberhard Passarge","is_ca":false},{"name":"Miles D. Thompson","is_ca":true},{"name":"David E.C. Cole","is_ca":true},{"name":"Denise Horn","is_ca":false},{"name":"Tony Roscioli","is_ca":false},{"name":"Stefan Mundlos","is_ca":false},{"name":"Peter N. Robinson","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01477386725185917,"gpt":0.290576730491805,"spread":0.2758028632399459,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000729601,0.0003260029,0.0006199716,0.002455211,0.0005839309,0.0009372695,0.0003434476,0.0006263917,0.001778625],"category_scores_gemma":[0.002066212,0.0001558554,0.0006521806,0.001058388,0.0002210987,0.000226546,0.0004197419,0.0003647695,0.0005344544],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002640618,"about_ca_system_score_gemma":0.0003452048,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002656475,"about_ca_topic_score_gemma":0.007872538,"domain_scores_codex":[0.9994647,0.0001046889,0.00007137375,0.0001232963,0.0001473865,0.00008858972],"domain_scores_gemma":[0.9989819,0.0004774742,0.0001719402,0.00009443027,0.0001091672,0.0001650522],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002216489,0.0002548845,0.2555551,0.0001990054,0.0005900034,0.007672032,0.0005093973,0.003222795,0.6552948,0.0008164811,0.002064373,0.0716047],"study_design_scores_gemma":[0.0001070812,0.000426838,0.8657949,0.00006827433,0.0006310085,0.01604699,0.0005046109,0.03014877,0.07788114,0.0008957156,0.00743848,0.00005614626],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996241,0.0001997006,0.002179799,0.00004355235,0.00001180167,0.00001363607,0.0007800542,0.00007061778,0.0004598433],"genre_scores_gemma":[0.9920054,0.000109234,0.004381637,0.00006067228,0.00001535249,0.000008841705,0.00289109,0.0000534187,0.0004743683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002656475,"threshold_uncertainty_score":0.005950093,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2891643925","doi":"10.1016/j.ajhg.2018.08.005","title":"ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":291,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Children's Hospital of Eastern Ontario; McGill University; University of Ottawa; McGill Genome Centre; McGill University Health Centre","funders":"Compute Canada; Genome Canada","keywords":"Nonsynonymous substitution; Exome; Missense mutation; Exome sequencing; Population; Allele frequency; Machine learning; 1000 Genomes Project; Computational biology; Computer science; Biology; Genetics; Artificial intelligence; Mutation; Allele; Genome; Single-nucleotide polymorphism; Genotype; Medicine; Gene","authors":[{"name":"Najmeh Alirezaie","is_ca":true},{"name":"Kristin D. Kernohan","is_ca":true},{"name":"Taila Hartley","is_ca":true},{"name":"Jacek Majewski","is_ca":true},{"name":"Toby Dylan Hocking","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01384740879249283,"gpt":0.284809035553464,"spread":0.2709616267609711,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001183753,0.002129649,0.001321107,0.002540034,0.0006560236,0.00109901,0.001051964,0.001483899,0.0190889],"category_scores_gemma":[0.00451297,0.0007414974,0.001496394,0.00155282,0.000253612,0.0006187081,0.001027407,0.001067805,0.006536289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002572513,"about_ca_system_score_gemma":0.001003728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007765187,"about_ca_topic_score_gemma":0.002390762,"domain_scores_codex":[0.9994942,0.0001353723,0.00006575183,0.0001590349,0.00009477541,0.00005083152],"domain_scores_gemma":[0.9981167,0.001283299,0.0001876909,0.0001209734,0.0001600956,0.000131261],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.00685668,0.0007293662,0.141139,0.006090315,0.002714073,0.008969198,0.0004072404,0.01935662,0.03947463,0.005613165,0.5355978,0.2330519],"study_design_scores_gemma":[0.004444588,0.001428631,0.1097566,0.001701367,0.00362844,0.03015535,0.0004707353,0.3545783,0.05250444,0.03879739,0.4020004,0.0005337209],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"methods","genre_scores_codex":[0.2630417,0.01085775,0.2233518,0.002392859,0.001642701,0.001002981,0.3146453,0.167364,0.01570102],"genre_scores_gemma":[0.4740141,0.002534363,0.2455898,0.002030375,0.000546704,0.001122762,0.2611381,0.008067266,0.004956474],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.0190889,"threshold_uncertainty_score":0.06385869,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2012372919","doi":"10.1038/gim.2013.113","title":"Recommendations for returning genomic incidental findings? We need to talk!","year":2013,"lang":"en","type":"review","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":288,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University","funders":"National Cancer Institute; National Human Genome Research Institute","keywords":"Exome sequencing; Exome; Medical genetics; Penetrance; Genomics; Psychological intervention; Personal genomics; Genetic testing; Whole genome sequencing; Medicine; Genetics; Biology; Genome; Gene; Phenotype; Psychiatry","authors":[{"name":"Wylie Burke","is_ca":false},{"name":"Armand H. Matheny Antommaria","is_ca":false},{"name":"Robin L. Bennett","is_ca":false},{"name":"Jeffrey R. Botkin","is_ca":false},{"name":"Ellen Wright Clayton","is_ca":false},{"name":"Gail E. Henderson","is_ca":false},{"name":"Ingrid A. Holm","is_ca":false},{"name":"Gail P. Jarvik","is_ca":false},{"name":"Muin J. Khoury","is_ca":false},{"name":"Bartha Maria Knoppers","is_ca":true},{"name":"Nancy A. Press","is_ca":false},{"name":"Lainie Friedman Ross","is_ca":false},{"name":"Mark A. Rothstein","is_ca":false},{"name":"Howard M. Saal","is_ca":false},{"name":"Wendy R. Uhlmann","is_ca":false},{"name":"Benjamin S. Wilfond","is_ca":false},{"name":"Susan M. Wolf","is_ca":false},{"name":"Ron Zimmern","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05833350044740238,"gpt":0.3612930299484399,"spread":0.3029595295010375,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01157293,0.00097762,0.002339756,0.002856078,0.001294309,0.00379937,0.002497866,0.01177485,0.01069206],"category_scores_gemma":[0.05915716,0.0005006479,0.001658918,0.001519689,0.002953649,0.01122095,0.003048135,0.01683284,0.006917973],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001550222,"about_ca_system_score_gemma":0.005233855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003580102,"about_ca_topic_score_gemma":0.006487541,"domain_scores_codex":[0.9953761,0.001998829,0.0008221372,0.0004141554,0.001116942,0.0002717194],"domain_scores_gemma":[0.9745234,0.01391813,0.001172162,0.001054494,0.007716083,0.001615784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007496579,0.00005442909,0.001265687,0.002022818,0.00008475575,0.001088305,0.0001262084,0.0002091168,0.0002017382,0.007357576,0.6531031,0.3344112],"study_design_scores_gemma":[0.000121565,0.00005177131,0.001070444,0.007161372,0.000168875,0.005379231,0.0005317848,0.0001714871,0.0001036788,0.02828299,0.9568429,0.0001138661],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"review","genre_scores_codex":[0.000357644,0.3921798,0.005556213,0.5478454,0.04893131,0.00006155515,0.0002274525,0.0002978035,0.004542854],"genre_scores_gemma":[0.004901971,0.4557998,0.01811499,0.4395181,0.0690542,0.0002476809,0.0008025228,0.0001646176,0.01139616],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.01177485,"threshold_uncertainty_score":0.0612042,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4283011953","doi":"10.1016/j.gim.2022.04.006","title":"ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)","year":2022,"lang":"en","type":"editorial","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":288,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"","keywords":"Medical genetics; Genomics; Exome sequencing; Statement (logic); Exome; Medicine; Computational biology; Genetics; Genome; Family medicine; Biology; Mutation; Political science; Gene","authors":[{"name":"David T. Miller","is_ca":false},{"name":"Kristy Lee","is_ca":false},{"name":"Noura S. Abul‐Husn","is_ca":false},{"name":"Laura M. Amendola","is_ca":false},{"name":"Kyle B. Brothers","is_ca":false},{"name":"Wendy K. Chung","is_ca":false},{"name":"Michael H. Gollob","is_ca":true},{"name":"Allan Gordon","is_ca":false},{"name":"Steven M. Harrison","is_ca":false},{"name":"Ray E. Hershberger","is_ca":false},{"name":"Teri E. Klein","is_ca":false},{"name":"Carolyn Sue Richards","is_ca":false},{"name":"Douglas R. Stewart","is_ca":false},{"name":"Christa Lese Martin","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03111061737836414,"gpt":0.3728000079423829,"spread":0.3416893905640188,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01985438,0.003142283,0.004883535,0.00488206,0.004746371,0.01167368,0.005270723,0.02649686,0.04780794],"category_scores_gemma":[0.058855,0.001894804,0.003298857,0.002646324,0.003132454,0.003844654,0.002147889,0.02921017,0.06982127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004403684,"about_ca_system_score_gemma":0.008300846,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004343184,"about_ca_topic_score_gemma":0.01408374,"domain_scores_codex":[0.9863582,0.002142203,0.001728437,0.001095165,0.007819227,0.0008566065],"domain_scores_gemma":[0.9242896,0.03032584,0.004399845,0.002385726,0.02921525,0.009383758],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001555288,0.000005455171,0.000009874271,0.00004557768,0.000004536924,0.0000338444,0.000002917443,0.00000961695,0.00001966237,0.0001335647,0.9984215,0.001297785],"study_design_scores_gemma":[0.0001126221,0.00002042542,0.0002313093,0.0003276253,0.00002460367,0.0001156706,0.00001641066,0.000187799,0.00008891289,0.001198091,0.9976518,0.0000248118],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"editorial","genre_gemma":"editorial","genre_scores_codex":[0.00002978379,0.0009099388,0.0003612019,0.05770377,0.934248,0.0001020014,0.0003707252,0.0003032701,0.005971308],"genre_scores_gemma":[0.0003319103,0.001077376,0.0004438772,0.0770042,0.8923838,0.0001406725,0.0002870421,0.0001756213,0.02815542],"genre_candidate":"editorial","genre_consensus":"editorial","teacher_disagreement_score":0.04780794,"threshold_uncertainty_score":0.1599334,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2405784650","doi":"10.1056/nejmoa1515792","title":"Exome Sequencing and the Management of Neurometabolic Disorders","year":2016,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":280,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"National Institute for Nanotechnology; BC Children's Hospital; University of Toronto; SickKids Foundation; University of British Columbia; Hospital for Sick Children; Simon Fraser University; University of Alberta; Child and Family Research Institute","funders":"National Institute of General Medical Sciences; Fondation Leenaards; University of British Columbia; British Heart Foundation; Genome British Columbia; Michael Smith Health Research BC; BC Children's Hospital; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Exome sequencing; Medicine; Exome; Bioinformatics; Disease; Translation (biology); Intellectual disability; Computational biology; Genetics; Gene; Mutation; Pathology; Biology; Psychiatry","authors":[{"name":"Maja Tarailo‐Graovac","is_ca":true},{"name":"Casper Shyr","is_ca":true},{"name":"Colin J.D. Ross","is_ca":true},{"name":"Gabriella Horváth","is_ca":true},{"name":"Ramona Salvarinova","is_ca":false},{"name":"Xin C. Ye","is_ca":true},{"name":"Lin-Hua Zhang","is_ca":false},{"name":"Amit P. Bhavsar","is_ca":true},{"name":"Jessica J. Y. Lee","is_ca":true},{"name":"Britt I. Drögemöller","is_ca":true},{"name":"Mena Abdelsayed","is_ca":true},{"name":"Majid Alfadhel","is_ca":false},{"name":"Linlea Armstrong","is_ca":true},{"name":"Matthias R. Baumgartner","is_ca":false},{"name":"Patricie Burda","is_ca":false},{"name":"Mary Connolly","is_ca":true},{"name":"Jessie M. Cameron","is_ca":true},{"name":"Michelle Demos","is_ca":true},{"name":"Tammie Dewan","is_ca":false},{"name":"Janis M. Dionne","is_ca":true},{"name":"A. Mark Evans","is_ca":false},{"name":"Jan M. Friedman","is_ca":true},{"name":"Ian Garber","is_ca":true},{"name":"M. E. Suzanne Lewis","is_ca":true},{"name":"Jiqiang Ling","is_ca":false},{"name":"Rupasri Mandal","is_ca":true},{"name":"André Mattman","is_ca":true},{"name":"Margaret L. McKinnon","is_ca":true},{"name":"Aspasia Michoulas","is_ca":false},{"name":"Daniel L. Metzger","is_ca":true},{"name":"Oluseye A. Ogunbayo","is_ca":false},{"name":"Bojana Rakić","is_ca":false},{"name":"Jacob Rozmus","is_ca":true},{"name":"Peter C. Ruben","is_ca":true},{"name":"Bryan Sayson","is_ca":false},{"name":"Saikat Santra","is_ca":false},{"name":"Kirk R. Schultz","is_ca":true},{"name":"Kathryn Selby","is_ca":true},{"name":"Paul Shekel","is_ca":false},{"name":"Sandra Sirrs","is_ca":true},{"name":"Cristina Skrypnyk","is_ca":false},{"name":"Andrea Superti‐Furga","is_ca":false},{"name":"Stuart E. Turvey","is_ca":true},{"name":"Margot I. Van Allen","is_ca":true},{"name":"David S. Wishart","is_ca":true},{"name":"Jiang Wu","is_ca":false},{"name":"John K. Wu","is_ca":false},{"name":"Dimitrios Zafeiriou","is_ca":false},{"name":"Leo A. J. Kluijtmans","is_ca":false},{"name":"Ron A. Wevers","is_ca":false},{"name":"Patrice Eydoux","is_ca":true},{"name":"Anna Lehman","is_ca":true},{"name":"Hilary Vallance","is_ca":true},{"name":"Sylvia Stöckler‐Ipsiroglu","is_ca":true},{"name":"Graham Sinclair","is_ca":true},{"name":"Wyeth W. Wasserman","is_ca":true},{"name":"Clara D.M. van Karnebeek","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.007033889722137161,"gpt":0.221763875491836,"spread":0.2147299857696988,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001268674,0.0004589015,0.0003572033,0.000837607,0.000265693,0.0006372611,0.0004149594,0.0006035258,0.0008773283],"category_scores_gemma":[0.003973587,0.0001097068,0.000201209,0.0005450646,0.0003677962,0.0004891136,0.0007948728,0.0004600703,0.0002617053],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003047812,"about_ca_system_score_gemma":0.0004094572,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004611955,"about_ca_topic_score_gemma":0.0006059741,"domain_scores_codex":[0.9995891,0.0001955089,0.00004740407,0.00007191452,0.00006484939,0.0000312396],"domain_scores_gemma":[0.9990376,0.0004957761,0.0002238985,0.00005508828,0.0001213218,0.0000663224],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00238292,0.0003004934,0.2207148,0.001049977,0.0005419769,0.00665065,0.0009098804,0.01330865,0.05986404,0.005862999,0.01811319,0.6703005],"study_design_scores_gemma":[0.0005099179,0.001995941,0.5245124,0.003267532,0.0007843711,0.05692808,0.00284554,0.07709514,0.116996,0.09909076,0.1157704,0.0002040785],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8263957,0.05956602,0.08155496,0.01796297,0.0003799219,0.0001908037,0.002898155,0.0004970194,0.01055438],"genre_scores_gemma":[0.947194,0.01722515,0.02983468,0.002529291,0.0002142237,0.0001553742,0.001573042,0.00007851345,0.001195798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001268674,"threshold_uncertainty_score":0.006709456,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2001533330","doi":"10.1038/nrg2302","title":"Research ethics and the challenge of whole-genome sequencing","year":2007,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":264,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Alberta","funders":"National Human Genome Research Institute","keywords":"Personal genomics; Milestone; Biology; Genome; Context (archaeology); Whole genome sequencing; Genomics; Research ethics; Cancer genome sequencing; Computational biology; Genetics; Engineering ethics; Gene; Biotechnology","authors":[{"name":"Amy L. McGuire","is_ca":false},{"name":"Timothy Caulfield","is_ca":true},{"name":"Mildred K. Cho","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1753111224442638,"gpt":0.4569515406113457,"spread":0.2816404181670819,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["research_integrity"],"consensus_categories":[],"category_scores_codex":[0.04551515,0.0009161386,0.002740327,0.00243981,0.001588524,0.004792669,0.003580173,0.01576117,0.003401849],"category_scores_gemma":[0.05198029,0.0006620687,0.0006785127,0.002244319,0.01781924,0.008334655,0.004157294,0.01691457,0.001805653],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004328217,"about_ca_system_score_gemma":0.007832691,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002314322,"about_ca_topic_score_gemma":0.003471594,"domain_scores_codex":[0.9826459,0.009851323,0.0008894578,0.0008431101,0.005250672,0.0005195328],"domain_scores_gemma":[0.8833418,0.1042549,0.001982676,0.002571279,0.006123469,0.001725938],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007311466,0.00006616789,0.0005369479,0.002852764,0.00009071176,0.0006376668,0.0005406972,0.0008808623,0.0005066859,0.3139037,0.1838845,0.4960263],"study_design_scores_gemma":[0.00003847053,0.00003685447,0.0006010667,0.004050288,0.00003270617,0.001834326,0.000375615,0.0003519059,0.0002356594,0.2405922,0.7518027,0.00004810205],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002008417,0.8764391,0.007385214,0.1079269,0.003229761,0.00001243694,0.00002599587,0.00004107156,0.004738759],"genre_scores_gemma":[0.006625922,0.9178476,0.005759683,0.05751806,0.009774094,0.0000894354,0.00006592855,0.00004712461,0.002272306],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9842388,"threshold_uncertainty_score":0.24071,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W3162351393","doi":"10.1038/s41436-021-01171-4","title":"Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":263,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"National Institutes of Health","keywords":"Medical genetics; Exome sequencing; Exome; Genomics; Medicine; Genetics; Family medicine; Biology; Genome; Gene; Mutation","authors":[{"name":"David T. Miller","is_ca":false},{"name":"Kristy Lee","is_ca":false},{"name":"Allan Gordon","is_ca":false},{"name":"Laura M. Amendola","is_ca":false},{"name":"Kathy Adelman","is_ca":false},{"name":"Sherri J. Bale","is_ca":false},{"name":"Wendy K. Chung","is_ca":false},{"name":"Michael H. Gollob","is_ca":true},{"name":"Steven M. Harrison","is_ca":false},{"name":"Gail E. Herman","is_ca":false},{"name":"Ray E. Hershberger","is_ca":false},{"name":"Teri E. Klein","is_ca":false},{"name":"Kent D. McKelvey","is_ca":false},{"name":"C. Sue Richards","is_ca":false},{"name":"Christopher N. Vlangos","is_ca":false},{"name":"Douglas R. Stewart","is_ca":false},{"name":"Michael S. Watson","is_ca":false},{"name":"Christa Lese Martin","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04168856096985157,"gpt":0.3803986991214386,"spread":0.3387101381515871,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.08946314,0.002087431,0.003941893,0.01295656,0.003121487,0.01302394,0.01124631,0.04262365,0.01283648],"category_scores_gemma":[0.2913137,0.003336553,0.006054405,0.01064881,0.003541061,0.007789781,0.006649064,0.02394077,0.01943603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006114723,"about_ca_system_score_gemma":0.04156979,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.06409211,"about_ca_topic_score_gemma":0.0730471,"domain_scores_codex":[0.9227774,0.02387051,0.02602549,0.002976704,0.02008934,0.004260598],"domain_scores_gemma":[0.6099256,0.1338012,0.04130787,0.0111128,0.1894566,0.0143959],"domain_codex":null,"domain_gemma":"reporting","domain_candidate":"reporting","domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007812693,0.00006978591,0.001739831,0.0008102572,0.00005745883,0.0001632313,0.0001737383,0.0002987215,0.0002349836,0.001943738,0.9646434,0.02978682],"study_design_scores_gemma":[0.000310897,0.0001146424,0.01056618,0.0108698,0.000339372,0.0006671653,0.0005332254,0.001020637,0.0009300668,0.005393652,0.9690587,0.0001956035],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.002086797,0.01636319,0.02869702,0.7989203,0.06474343,0.003025369,0.03456146,0.004052632,0.04754979],"genre_scores_gemma":[0.007277349,0.01866834,0.09744583,0.7719496,0.02699387,0.00760357,0.03424186,0.001519766,0.03429984],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.9105369,"threshold_uncertainty_score":0.473132,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W2166014535","doi":"10.1212/wnl.0b013e3182345896","title":"Evidence Report: Genetic and metabolic testing on children with global developmental delay [RETIRED]","year":2011,"lang":"en","type":"review","venue":"Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":258,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University","funders":"American Academy of Neurology","keywords":"Genetic testing; Global developmental delay; Medicine; Microarray; Pediatrics; Internal medicine; Biology; Genetics; Phenotype; Gene","authors":[{"name":"David Michelson","is_ca":true},{"name":"Michael Shevell","is_ca":true},{"name":"Elliott H. Sherr","is_ca":true},{"name":"John B. Moeschler","is_ca":true},{"name":"Andrea Gropman","is_ca":true},{"name":"Stephen Ashwal","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04377267295596628,"gpt":0.2784882383841907,"spread":0.2347155654282244,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.005624798,0.0009305026,0.001627317,0.00911253,0.0004550113,0.002058007,0.001343066,0.00233247,0.008772012],"category_scores_gemma":[0.0706892,0.00061307,0.002189053,0.006757082,0.0007061269,0.001327445,0.0009823546,0.001273311,0.00150585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001860185,"about_ca_system_score_gemma":0.005699875,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007158324,"about_ca_topic_score_gemma":0.01195548,"domain_scores_codex":[0.9909353,0.002939738,0.003072067,0.0005911546,0.002238214,0.0002236026],"domain_scores_gemma":[0.9372537,0.03145356,0.01786977,0.0007669864,0.01158531,0.001070709],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.001049099,0.00008612862,0.03208671,0.3771439,0.005374512,0.001700214,0.0001853219,0.0002260006,0.0004996005,0.001080944,0.05431268,0.5262549],"study_design_scores_gemma":[0.0007664208,0.0007602985,0.06953008,0.7603308,0.01470538,0.006848734,0.0004241993,0.0001025155,0.0004675036,0.0008423789,0.1451571,0.00006465285],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002280382,0.9837849,0.0002034124,0.003193816,0.0009335238,0.0001590184,0.002360701,0.00001886323,0.007065341],"genre_scores_gemma":[0.02783071,0.9620842,0.001302366,0.00437081,0.001277403,0.0001952309,0.00243553,0.00001078061,0.0004930074],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00911253,"threshold_uncertainty_score":0.02974713,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}