{"meta":{"page":1,"per_page":50,"max_per_page":100,"total":197,"total_is_capped":false,"direct_labels_cover":0,"predictions_cover":197,"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":"1460e651b56d","filters":{"venue":"Genetics in Medicine Open"}},"results":[{"id":"W4391146828","doi":"10.1016/j.gimo.2024.101814","title":"Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Institute of Cancer Research; Ontario Institute for Cancer Research; University of British Columbia; Hospital for Sick Children; Public Health Ontario; Princess Margaret Cancer Centre; Sinai Health System; Sunnybrook Hospital; University Health Network; University of Toronto; St. Michael's Hospital","funders":"Canadian Institutes of Health Research","keywords":"Usability; Genetic testing; Medicine; Computer science; Genetics; Human–computer interaction; Biology","authors":[{"name":"Marc Clausen","is_ca":true},{"name":"Suvetha Krishnapillai","is_ca":true},{"name":"Daena Hirjikaka","is_ca":true},{"name":"Rita Kodida","is_ca":true},{"name":"Salma Shickh","is_ca":true},{"name":"Emma Reble","is_ca":true},{"name":"Chloe Mighton","is_ca":true},{"name":"Jordan Sam","is_ca":true},{"name":"Ella Adi-Wauran","is_ca":true},{"name":"Nancy N. Baxter","is_ca":false},{"name":"Geoff Feldman","is_ca":true},{"name":"Emily Glogowski","is_ca":false},{"name":"Jordan Lerner‐Ellis","is_ca":true},{"name":"Adena Scheer","is_ca":true},{"name":"Serena Shastri-Estrada","is_ca":true},{"name":"Cheryl Shuman","is_ca":true},{"name":"Susan Randall Armel","is_ca":true},{"name":"Melyssa Aronson","is_ca":true},{"name":"Tracy Graham","is_ca":true},{"name":"Seema Panchal","is_ca":true},{"name":"Kevin E. Thorpe","is_ca":true},{"name":"June Carroll","is_ca":true},{"name":"Andrea Eisen","is_ca":true},{"name":"Christine Elser","is_ca":true},{"name":"Raymond H. Kim","is_ca":true},{"name":"Hanna Faghfoury","is_ca":true},{"name":"Kasmintan A. Schrader","is_ca":true},{"name":"Emily Seto","is_ca":true},{"name":"Yvonne Bombard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.08518047217331973,"gpt":0.4067797098955139,"spread":0.3215992377221942,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001127658,0.0001395028,0.0002242515,0.00004785107,0.00006594328,0.00005123752,0.000412341,0.00006926405,0.000007020842],"category_scores_gemma":[0.000624669,0.000109809,0.00001856673,0.0003123942,0.0001450777,0.00000409623,0.0006671462,0.0001264941,0.000004521783],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009358548,"about_ca_system_score_gemma":0.00153748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009721085,"about_ca_topic_score_gemma":0.0002175395,"domain_scores_codex":[0.9982135,0.00006116361,0.0008345734,0.0005029343,0.0001753971,0.000212388],"domain_scores_gemma":[0.9990182,0.0001579923,0.0001333939,0.000441132,0.0001026943,0.00014659],"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":[0.00001739508,0.00003024739,0.0815253,0.00005677751,0.00002267998,7.45629e-7,0.00133168,0.000862481,0.005275505,0.000008250102,0.001871263,0.9089977],"study_design_scores_gemma":[0.00174683,0.005271999,0.5146097,0.0005941633,0.00006697162,0.00007324087,0.002279265,0.006134483,0.01861111,0.001255255,0.448649,0.0007079272],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873965,0.002816717,0.006105789,0.001366638,0.0001982765,0.001148166,0.00001409724,0.000007911581,0.0009458679],"genre_scores_gemma":[0.9282893,0.0001144656,0.07047682,0.0006556446,0.0002468892,0.00007485118,0.00004478619,0.00002454317,0.00007270974],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9082897,"threshold_uncertainty_score":0.4477883,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4377108187","doi":"10.1016/j.gimo.2023.100817","title":"GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"Université de Strasbourg; Fondation Jérôme Lejeune","keywords":"Intellectual disability; Citizen journalism; Gerontology; Psychology; Medicine; Sociology; Psychiatry; Computer science; World Wide Web","authors":[{"name":"Florent Colin","is_ca":false},{"name":"Pauline Burger","is_ca":false},{"name":"Timothée Mazzucotelli","is_ca":false},{"name":"Axelle Strehle","is_ca":false},{"name":"Joost Kummeling","is_ca":false},{"name":"Nicole Collot","is_ca":false},{"name":"Elyette Broly","is_ca":false},{"name":"Angela T. Morgan","is_ca":false},{"name":"Kenneth A. Myers","is_ca":true},{"name":"Agnès Bloch‐Zupan","is_ca":false},{"name":"Charlotte W. Ockeloen","is_ca":false},{"name":"Bert B.A. de Vries","is_ca":false},{"name":"Tjitske Kleefstra","is_ca":false},{"name":"Pierre Parrend","is_ca":false},{"name":"David A. Koolen","is_ca":false},{"name":"Jean‐Louis Mandel","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03165008061682627,"gpt":0.3043841572463657,"spread":0.2727340766295395,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004473543,0.0002047119,0.0003273765,0.00009231202,0.00007687406,0.00003106741,0.0004099857,0.0001272,0.0000175218],"category_scores_gemma":[0.0006655707,0.0001556566,0.00005722211,0.0002194835,0.0003387764,0.00001123786,0.0002572526,0.00008215661,0.000003148664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000537659,"about_ca_system_score_gemma":0.0003377371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008169717,"about_ca_topic_score_gemma":0.0002241055,"domain_scores_codex":[0.9984224,0.00006655876,0.0005939606,0.0003260111,0.0002463805,0.000344713],"domain_scores_gemma":[0.9987848,0.00008545157,0.0002803702,0.0005721304,0.0001518188,0.0001253894],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003850282,0.0009454965,0.8638344,0.001691652,0.001039904,0.0001240738,0.02489262,0.01666843,0.03142538,0.0001953912,0.01413618,0.04119616],"study_design_scores_gemma":[0.009146447,0.015984,0.8452067,0.000813672,0.0004734043,0.0001759994,0.02472553,0.002058676,0.06833038,0.002539068,0.02928033,0.001265796],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973031,0.0002641833,0.0003415681,0.0001935137,0.00007326676,0.001515404,0.000141778,0.00001093418,0.000156306],"genre_scores_gemma":[0.9976218,0.0001836371,0.0009246193,0.000188039,0.00003777974,0.0004421788,0.0005327737,0.00002373235,0.00004539897],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03993037,"threshold_uncertainty_score":0.634749,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4400912864","doi":"10.1016/j.gimo.2024.101873","title":"ARID1B-related disorder in 87 adults: Natural history and self-sustainability","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"London Health Sciences Centre","funders":"National Human Genome Research Institute; National Institute of Mental Health; Peking University Health Science Center; Fundamental Research Funds for the Central Universities; National Institutes of Health; Hospices Civils de Lyon; Radboud Universitair Medisch Centrum; Università degli Studi di Palermo; Dartmouth College; Karadeniz Teknik Üniversitesi; Centre National de la Recherche Scientifique; Ohio State University; Radboud Universiteit; Peking University; 's Heeren Loo; Gentofte Hospital; Institut National de la Santé et de la Recherche Médicale; Università degli Studi di Siena; Università di Bologna; Leids Universitair Medisch Centrum; Berlin Institute of Health; Universitair Medisch Centrum Groningen; Ministry of Education of the People's Republic of China; Universiteit Leiden; National Health Commission of the People's Republic of China; Universiteit Maastricht; University Hospital Southampton NHS Foundation Trust; Università degli Studi di Napoli Federico II; Région Normandie; Rigshospitalet; University of Washington; Broad Institute; London Health Sciences Centre; Technische Universität München; Nationwide Children's Hospital; Univerzita Komenského v Bratislave; School of Medicine, Indiana University; Maastricht Universitair Medisch Centrum; Rijksuniversiteit Groningen","keywords":"Sustainability; Natural history; Natural (archaeology); Psychology; Medicine; Geography; Ecology; Biology; Internal medicine; Archaeology","authors":[{"name":"Pleuntje J. van der Sluijs","is_ca":false},{"name":"M. Gösgens","is_ca":false},{"name":"Alexander J.M. Dingemans","is_ca":false},{"name":"P. Striano","is_ca":false},{"name":"Antonella Riva","is_ca":false},{"name":"C. Mignot","is_ca":false},{"name":"A. Faudet","is_ca":false},{"name":"Georgia Vasileiou","is_ca":false},{"name":"Michael Walther","is_ca":false},{"name":"Samantha A. Schrier Vergano","is_ca":false},{"name":"Mariëlle Alders","is_ca":false},{"name":"Fowzan S. Alkuraya","is_ca":false},{"name":"Ibrahim A. Alorainy","is_ca":false},{"name":"Hessa S. Alsaif","is_ca":false},{"name":"BM Anderlid","is_ca":false},{"name":"Ian Bache","is_ca":false},{"name":"Ingrid van Beek","is_ca":false},{"name":"Maud Blanluet","is_ca":false},{"name":"Bregje W.M. van Bon","is_ca":false},{"name":"T. Brunet","is_ca":false},{"name":"H. Brunner","is_ca":false},{"name":"Miriam Lucia Carriero","is_ca":false},{"name":"P. Charles","is_ca":false},{"name":"N. Chatron","is_ca":false},{"name":"Emanuele Coccia","is_ca":false},{"name":"C. Dubourg","is_ca":false},{"name":"Rachel K. Earl","is_ca":false},{"name":"Evan E. Eichler","is_ca":false},{"name":"L. Faivre","is_ca":false},{"name":"Nicola Foulds","is_ca":false},{"name":"Claudio Graziano","is_ca":false},{"name":"A.-M. Guerrot","is_ca":false},{"name":"Solveig Heide","is_ca":false},{"name":"Delphine Héron","is_ca":false},{"name":"Scott E. Hickey","is_ca":false},{"name":"Saskia Hopman","is_ca":false},{"name":"Anja A. Kattentidt‐Mouravieva","is_ca":false},{"name":"Jennifer Kerkhof","is_ca":true},{"name":"Jolien S. Klein Wassink‐Ruiter","is_ca":false},{"name":"Evangeline C. Kurtz‐Nelson","is_ca":false},{"name":"K. Kušíková","is_ca":false},{"name":"Malin Kvarnung","is_ca":false},{"name":"François Lecoquierre","is_ca":false},{"name":"Gloria Leszinski","is_ca":false},{"name":"L. Loberti","is_ca":false},{"name":"Pilar Magoulas","is_ca":false},{"name":"Francesca Mari","is_ca":false},{"name":"Isabelle Maystadt","is_ca":false},{"name":"Giuseppe Merla","is_ca":false},{"name":"Jeff M. Milunsky","is_ca":false},{"name":"S. Moortgat","is_ca":false},{"name":"Gaël Nicolas","is_ca":false},{"name":"Mal Leary","is_ca":false},{"name":"S. Odent","is_ca":false},{"name":"Jillian R. Ozmore","is_ca":false},{"name":"Kareesma Parbhoo","is_ca":false},{"name":"Rolph Pfundt","is_ca":false},{"name":"Maria Piccione","is_ca":false},{"name":"Anna Maria Pinto","is_ca":false},{"name":"Bernt Popp","is_ca":false},{"name":"Audrey Putoux","is_ca":false},{"name":"Heidi L. Rehm","is_ca":false},{"name":"A. Heitor Reis","is_ca":false},{"name":"Alessandra Renieri","is_ca":false},{"name":"Jill A. Rosenfeld","is_ca":false},{"name":"Michele Marta Rossi","is_ca":false},{"name":"Emanuela Salzano","is_ca":false},{"name":"P. Saugier-Veber","is_ca":false},{"name":"Marco Seri","is_ca":false},{"name":"Gianluca Severi","is_ca":false},{"name":"F.M. Sonmez","is_ca":false},{"name":"G Strobl‐Wildemann","is_ca":false},{"name":"K.E. Stuurman","is_ca":false},{"name":"Eyyüp Üçtepe","is_ca":false},{"name":"Hilde Van Esch","is_ca":false},{"name":"G. Vitetta","is_ca":false},{"name":"Bert B.A. de Vries","is_ca":false},{"name":"David B. Wahl","is_ca":false},{"name":"T. Wang","is_ca":false},{"name":"Pia Zacher","is_ca":false},{"name":"Karin R. Heitink","is_ca":false},{"name":"Fabienne G. Ropers","is_ca":false},{"name":"Duco Steenbeek","is_ca":false},{"name":"T Rybak","is_ca":false},{"name":"Gijs W.E. Santen","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.006348465978547915,"gpt":0.2858824613521332,"spread":0.2795339953735853,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004514814,0.0001368691,0.0001819113,0.00007042501,0.00001892752,0.00001745321,0.0002455803,0.0001261677,0.00004763059],"category_scores_gemma":[0.0001377323,0.0001169076,0.00002115363,0.0001257492,0.0001206768,0.000004440677,0.000243835,0.0002157787,0.00000162971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001960955,"about_ca_system_score_gemma":0.0002511932,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006278106,"about_ca_topic_score_gemma":0.0007561449,"domain_scores_codex":[0.9989019,0.00006591444,0.0002907804,0.0004344978,0.0001090232,0.000197858],"domain_scores_gemma":[0.999572,0.00001971872,0.00002880608,0.0002720107,0.00005711034,0.00005030863],"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":[0.001180594,0.001239559,0.159412,0.00470754,0.0005056684,0.0004478518,0.03299877,0.005238576,0.06773671,0.001562871,0.0667515,0.6582184],"study_design_scores_gemma":[0.010794,0.001564033,0.06119284,0.001944893,0.0001260573,0.0001254146,0.006456101,0.1117957,0.001839898,0.007175267,0.7955371,0.001448764],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9134729,0.08274876,0.00006776508,0.0009161814,0.0004573106,0.00040022,0.000002152006,0.00001363248,0.001921098],"genre_scores_gemma":[0.9944064,0.003532669,0.0005879378,0.0002298764,0.0001060846,0.00003924717,0.00004602032,0.00002074769,0.001031019],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7287856,"threshold_uncertainty_score":0.4767352,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4410221312","doi":"10.1016/j.gimo.2025.103435","title":"Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"Jewish General Hospital; Université du Québec à Chicoutimi; Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Centre Hospitalier Universitaire de Sherbrooke; Université de Sherbrooke; Université Laval; Université de Montréal","funders":"Fondation du Grand défi Pierre Lavoie","keywords":"Founder effect; Hereditary Diseases; Population; Genetics; Genealogy; Medicine; Demography; Political science; Biology; Environmental health; Sociology; History; Haplotype; Gene; Allele","authors":[{"name":"Carol‐Ann Fortin","is_ca":true},{"name":"Mélanie Côté-Richer","is_ca":true},{"name":"Karine Truchon","is_ca":true},{"name":"Josianne Leblanc","is_ca":true},{"name":"Annabelle Pratte","is_ca":true},{"name":"Jessica Tardif","is_ca":true},{"name":"Marie‐Jacqueline Thomas","is_ca":true},{"name":"Josée Villeneuve","is_ca":false},{"name":"Jean Mathieu","is_ca":true},{"name":"Doria Grimard","is_ca":true},{"name":"Mathieu Desmeules","is_ca":true},{"name":"Claudia Moreau","is_ca":true},{"name":"Simon Girard","is_ca":true},{"name":"Tania Cruz Mariño","is_ca":true},{"name":"Luigi Bouchard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01876753886564386,"gpt":0.385732464015868,"spread":0.3669649251502241,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005002466,0.0001910212,0.0006357735,0.0004814659,0.0000374856,0.00002156374,0.0002577459,0.0000582653,0.00002347801],"category_scores_gemma":[0.001673841,0.0001458222,0.00001529521,0.001590811,0.0001051853,0.0001486538,0.00007492419,0.0001877709,2.079194e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005592363,"about_ca_system_score_gemma":0.00143081,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8718213,"about_ca_topic_score_gemma":0.9856352,"domain_scores_codex":[0.9979557,0.0002086007,0.0005983628,0.0003982315,0.0005300891,0.0003090228],"domain_scores_gemma":[0.9983569,0.0007489439,0.0001662842,0.0003129271,0.0003159261,0.00009901143],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002909122,0.0001858107,0.9441191,0.001264808,0.00003532829,0.00004805692,0.0001661399,0.005506917,0.00007530072,0.0000187255,0.0001397043,0.04553102],"study_design_scores_gemma":[0.007283294,0.001590839,0.9765779,0.004792128,0.00005181655,8.69623e-7,0.000560739,0.008295465,0.0003035857,0.000235181,0.000179734,0.0001284823],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908363,0.001024299,0.0004218946,0.001535707,0.0000813322,0.005963804,0.00005120776,0.000009458109,0.00007598117],"genre_scores_gemma":[0.9883571,0.0000118905,0.009292221,0.0001771701,0.00005124594,0.001098175,0.0009139513,0.0000214036,0.00007686599],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1138139,"threshold_uncertainty_score":0.5946455,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4402422736","doi":"10.1016/j.gimo.2024.101891","title":"Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the GLA gene across 5 years: Longitudinal data from the Fabry MOPPet Study","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Sherbrooke","funders":"Sanofi Genzyme; Sanofi","keywords":"Longitudinal study; Pediatrics; Medicine; Prospective cohort study; Longitudinal data; Genetics; Internal medicine; Demography; Biology; Pathology; Sociology","authors":[{"name":"Dawn A. Laney","is_ca":false},{"name":"Morgan F. Houde","is_ca":false},{"name":"Allison L. Foley","is_ca":false},{"name":"Dawn Peck","is_ca":false},{"name":"Andrea M. Atherton","is_ca":false},{"name":"Linda Manwaring","is_ca":false},{"name":"Dorothy K. Grange","is_ca":false},{"name":"B. Heese","is_ca":false},{"name":"Myrl Holida","is_ca":false},{"name":"Alexandria L. Quillin","is_ca":false},{"name":"Robert K. Vinson","is_ca":false},{"name":"Christiane Auray‐Blais","is_ca":true},{"name":"Robert J. Hopkin","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04938766891841044,"gpt":0.3872579779916744,"spread":0.3378703090732639,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001404667,0.0001445021,0.0003130781,0.0001256276,0.00004371121,0.00009152654,0.0007648238,0.0000613669,0.00002344013],"category_scores_gemma":[0.0002163047,0.0000771448,0.00000758309,0.0009771285,0.0001451419,0.0001620672,0.0007482236,0.0004020778,0.000002546481],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006302519,"about_ca_system_score_gemma":0.0001435031,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002263028,"about_ca_topic_score_gemma":0.002706743,"domain_scores_codex":[0.9978452,0.0002624262,0.0003735856,0.0005074923,0.0007636751,0.0002475923],"domain_scores_gemma":[0.9989627,0.000167016,0.00008070892,0.0006635496,0.00008170457,0.00004429295],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004996186,0.0005473105,0.975093,0.00004374042,0.00003427901,0.0001732779,0.02044088,0.000001076965,0.0001011736,0.000001343857,0.00003300533,0.003031274],"study_design_scores_gemma":[0.004233069,0.00125136,0.9909874,0.0004511433,0.00006185363,0.000006512224,0.002459487,0.0004177807,0.000008405354,0.00003693836,0.000006177595,0.00007993316],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947096,0.0008430551,0.00002592256,0.0003564776,0.00008053336,0.003773598,0.0001631369,0.00000528829,0.00004239509],"genre_scores_gemma":[0.9989054,0.0002870371,0.00009437361,0.00003502565,0.000107003,0.0001223273,0.0004108179,0.00002307583,0.00001498302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01798139,"threshold_uncertainty_score":0.3421037,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4412438225","doi":"10.1016/j.gimo.2025.103445","title":"Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Lipid metabolism and disorders","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Western University; St. Thomas Hospital","funders":"Manchester Biomedical Research Centre; National Institute for Health and Care Research","keywords":"Kingdom; Medicine; Genetics; Geography; Biology","authors":[{"name":"Bilal Bashir","is_ca":false},{"name":"Natalie Forrester","is_ca":false},{"name":"Paul Downie","is_ca":false},{"name":"Sarah Marsh","is_ca":false},{"name":"C. E. Dent","is_ca":false},{"name":"Anthony S. Wierzbicki","is_ca":true},{"name":"Charlotte Dawson","is_ca":false},{"name":"Jonathan Schofield","is_ca":false},{"name":"Fiona Jenkinson","is_ca":false},{"name":"Michael Mansfield","is_ca":false},{"name":"D. Datta","is_ca":false},{"name":"Hannah Delaney","is_ca":false},{"name":"Yee Teoh","is_ca":false},{"name":"Paul Hamilton","is_ca":false},{"name":"Jaimini Cegla","is_ca":false},{"name":"Maryam Ferdousi","is_ca":false},{"name":"Anoushka Kamath","is_ca":false},{"name":"Pankaj Gupta","is_ca":false},{"name":"Ahai Luvai","is_ca":false},{"name":"Dawn O’Sullivan","is_ca":false},{"name":"Deanna Mamood","is_ca":false},{"name":"Jian Wang","is_ca":true},{"name":"Paul N. Durrington","is_ca":false},{"name":"Robert A. Hegele","is_ca":true},{"name":"Handrean Soran","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03181108879107611,"gpt":0.3230101354928629,"spread":0.2911990467017869,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009450047,0.0001962078,0.0006537933,0.0005863955,0.00003993306,0.00001694868,0.0008010828,0.0001352363,0.000196566],"category_scores_gemma":[0.000345316,0.0001297923,0.00004247939,0.001460048,0.0001943172,0.0000269705,0.0002629629,0.0003312817,0.000006584191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002910365,"about_ca_system_score_gemma":0.0002854745,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002225018,"about_ca_topic_score_gemma":0.0002454489,"domain_scores_codex":[0.9981722,0.0001933811,0.0006606351,0.0003284475,0.0003300353,0.0003152883],"domain_scores_gemma":[0.9988505,0.0001853561,0.0001052258,0.0007130901,0.0000789973,0.00006686793],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00157016,0.001318818,0.9054499,0.001278489,0.0002460215,0.001476664,0.01083823,0.001466324,0.01499709,0.007330055,0.03869035,0.01533793],"study_design_scores_gemma":[0.01213585,0.0003397463,0.9575931,0.0008656431,0.0002298992,0.0001261802,0.002913478,0.000769373,0.0002606398,0.00115931,0.0234325,0.0001742429],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9800993,0.00254091,0.0001617528,0.0033145,0.0004677298,0.001320221,0.000008996284,0.000008576051,0.01207797],"genre_scores_gemma":[0.9939151,0.0008791114,0.001303392,0.003317771,0.0001141186,0.00005585876,0.00007036232,0.00001810566,0.0003262244],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05214328,"threshold_uncertainty_score":0.5292776,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4401273177","doi":"10.1016/j.gimo.2024.101882","title":"Ascertainment of uninterrupted CAG repeat length and disease-modifying variants in fragment-based genetic testing for Huntington Disease","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia","funders":"Canadian Institutes of Health Research; Ruhr-Universität Bochum; BC Children's Hospital; Huntington's Disease Society of America","keywords":"Huntington's disease; Disease; Fragment (logic); Genetics; Biology; Computational biology; Medicine; Computer science; Internal medicine; Algorithm","authors":[{"name":"Hailey Findlay Black","is_ca":true},{"name":"Chris Kay","is_ca":true},{"name":"Jessica Dawson","is_ca":true},{"name":"Stephanie Bortnick","is_ca":true},{"name":"Kyla Javier","is_ca":true},{"name":"Qingwen Xia","is_ca":true},{"name":"Cheuk Hin Chau","is_ca":true},{"name":"Tess Leavitt","is_ca":true},{"name":"Larissa Arning","is_ca":false},{"name":"Huu Phuc Nguyen","is_ca":false},{"name":"Michael R. Hayden","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09146180123201202,"gpt":0.3619725245179669,"spread":0.2705107232859549,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005077526,0.000298919,0.0004002967,0.0003588468,0.00008787912,0.0001038092,0.0006031814,0.00004165469,0.00004491027],"category_scores_gemma":[0.004516987,0.0002742847,0.00004470104,0.0006087873,0.0002654833,0.00007221421,0.0003727595,0.0001659112,0.000001860475],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008572642,"about_ca_system_score_gemma":0.0004125723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001299924,"about_ca_topic_score_gemma":0.00004830325,"domain_scores_codex":[0.9970608,0.0003020895,0.0007036983,0.001041027,0.0004449327,0.0004474579],"domain_scores_gemma":[0.9978833,0.0009863316,0.0001321335,0.0005354963,0.00006604328,0.000396692],"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":[0.0009147436,0.0007282211,0.3076511,0.002690495,0.00003062403,0.0005499398,0.001490983,0.04427008,0.6002427,0.0009411059,0.0006152537,0.03987475],"study_design_scores_gemma":[0.005523678,0.0009589996,0.4530955,0.004345565,0.0002529142,0.000004214352,0.0003635701,0.4172452,0.112615,0.004313423,0.000540729,0.0007412328],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992646,0.001745512,0.001460449,0.001337951,0.0003261537,0.00206245,0.00009356251,0.00002970843,0.0002981948],"genre_scores_gemma":[0.9945374,0.0001364531,0.003935916,0.0008538809,0.00008611501,0.0002861267,0.00001722569,0.00006065162,0.00008626096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4876278,"threshold_uncertainty_score":0.9999709,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4388599793","doi":"10.1016/j.gimo.2023.100841","title":"Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Metalloenzymes and iron-sulfur proteins","field":"Energy","cited_by":4,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Ferredoxin; Genotype; Phenotype; Correlation; Population; Ferredoxin—NADP(+) reductase; Genetics; Biology; Genotype-phenotype distinction; Medicine; Gene; Enzyme; Environmental health; Biochemistry; Mathematics","authors":[{"name":"Teresa Campbell","is_ca":false},{"name":"Jesse Slone","is_ca":false},{"name":"Hallie Metzger","is_ca":false},{"name":"Wensheng Liu","is_ca":false},{"name":"Stephanie Sacharow","is_ca":false},{"name":"Amy Yang","is_ca":false},{"name":"Mariya Moosajee","is_ca":false},{"name":"Chiara La Morgia","is_ca":false},{"name":"Valério Carelli","is_ca":false},{"name":"Flavia Palombo","is_ca":false},{"name":"Matthew A. Lines","is_ca":true},{"name":"A. Micheil Innes","is_ca":true},{"name":"Rebecca J. Levy","is_ca":false},{"name":"Derek Neilson","is_ca":false},{"name":"Nicola Longo","is_ca":false},{"name":"Taosheng Huang","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.08946145732305189,"gpt":0.3829717839851136,"spread":0.2935103266620617,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00213226,0.0001457224,0.0004701074,0.0001879968,0.0000511856,0.00001328609,0.0004240195,0.0001200064,0.00006206499],"category_scores_gemma":[0.0003590229,0.0001050098,0.00002563012,0.0008983591,0.0001450812,0.00005620051,0.000129721,0.000274287,0.000001546025],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001340496,"about_ca_system_score_gemma":0.00008321435,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008606635,"about_ca_topic_score_gemma":0.005077592,"domain_scores_codex":[0.9974169,0.0006080472,0.001041323,0.0003275705,0.0004158495,0.000190336],"domain_scores_gemma":[0.9989242,0.000176312,0.0003431887,0.0004316214,0.00007295738,0.00005170391],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004852536,0.0005021848,0.8538598,0.00008442689,0.00007733056,0.00003100988,0.008679169,0.0858364,0.003319107,0.00282384,0.0002518873,0.04404961],"study_design_scores_gemma":[0.003980589,0.001341174,0.9567275,0.0001767663,0.0000777913,0.000001464898,0.004481047,0.03087624,0.0001668736,0.001837197,0.0001945339,0.0001388407],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967203,0.0003895304,0.0001030525,0.0003239152,0.0002785336,0.001468996,0.000007031804,0.00001024791,0.0006983623],"genre_scores_gemma":[0.9978557,0.000056861,0.001706293,0.00004601308,0.00008496278,0.00004274756,0.000117715,0.00002156145,0.00006817127],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1028677,"threshold_uncertainty_score":0.9979951,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4391142186","doi":"10.1016/j.gimo.2024.101815","title":"ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"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; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Rare Diseases Clinical Research Network","keywords":"Arginase; Medicine; Pediatrics; Biology; Computational biology; Genetics","authors":[{"name":"Jessie M. Cameron","is_ca":true},{"name":"Mayowa A. Osundiji","is_ca":true},{"name":"Rory J. Olson","is_ca":false},{"name":"Bukola A. Olarewaju","is_ca":false},{"name":"Andreas Schulze","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04570367929040557,"gpt":0.3720262428341342,"spread":0.3263225635437286,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003248863,0.0001225453,0.0001367878,0.00008299053,0.00005362268,0.0000653795,0.0003377698,0.0001050724,0.00001144683],"category_scores_gemma":[0.0007757404,0.0001070168,0.00001855734,0.000170752,0.0001133779,0.000004124674,0.000183902,0.0000826694,0.000002213905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001878806,"about_ca_system_score_gemma":0.0001401684,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002930856,"about_ca_topic_score_gemma":0.00007988932,"domain_scores_codex":[0.9990532,0.00002421434,0.0002470693,0.0004254212,0.00005766245,0.000192389],"domain_scores_gemma":[0.9992957,0.0001828542,0.00004017505,0.000356165,0.00005058418,0.00007459665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002680732,0.0007456509,0.5492972,0.00254569,0.0001004166,0.00006145707,0.002203032,0.001946126,0.2383705,0.1065976,0.01270098,0.08516326],"study_design_scores_gemma":[0.001267243,0.0006705338,0.8504498,0.001031132,0.0001294498,0.00005820481,0.0004767668,0.006346549,0.002210601,0.08399478,0.05278086,0.0005840656],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9272068,0.04294572,0.02336729,0.004033304,0.0002410724,0.00139616,0.0002130246,0.00001125475,0.0005853734],"genre_scores_gemma":[0.9654133,0.01715085,0.01649248,0.0002419169,0.0001214258,0.0002868385,0.0001796613,0.00002155614,0.00009196816],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3011526,"threshold_uncertainty_score":0.4364019,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4366483876","doi":"10.1016/j.gimo.2023.100810","title":"Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital","funders":"National Health and Medical Research Council; Cumming School of Medicine, University of Calgary; Australian Government; Murdoch Children's Research Institute; University of North Carolina at Chapel Hill; University of Melbourne; Medical Research Council; Alberta Children's Hospital Research Institute; Children’s Hospital of Wisconsin Research Institute","keywords":"Hypothalamic hamartoma; Mosaic; GLI3; Hamartoma; Biology; Computational biology; Genetics; Endocrinology; Art; Gene; Visual arts","authors":[{"name":"Timothy E. Green","is_ca":false},{"name":"Mark F. Bennett","is_ca":false},{"name":"Ilka Immisch","is_ca":false},{"name":"Jeremy L. Freeman","is_ca":false},{"name":"Karl Martin Klein","is_ca":true},{"name":"John Kerrigan","is_ca":false},{"name":"Lata Vadlamudi","is_ca":false},{"name":"Erin L. Heinzen","is_ca":false},{"name":"Ingrid E. Scheffer","is_ca":false},{"name":"A. Simon Harvey","is_ca":false},{"name":"Felix Rosenow","is_ca":false},{"name":"Michael S. Hildebrand","is_ca":false},{"name":"Samuel F. Berkovic","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03683333469331219,"gpt":0.323547169900441,"spread":0.2867138352071288,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001722087,0.0002347269,0.0004595673,0.0001823391,0.00007225429,0.00001619647,0.001022079,0.0001608377,0.00005785856],"category_scores_gemma":[0.0005780096,0.000180285,0.00005411497,0.0008925778,0.0003067022,0.000003130991,0.0008002294,0.0002301859,0.00002483387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000158505,"about_ca_system_score_gemma":0.0001416385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002769541,"about_ca_topic_score_gemma":0.001334964,"domain_scores_codex":[0.99767,0.0002557717,0.0007812986,0.0005422384,0.0002586483,0.0004920503],"domain_scores_gemma":[0.9987777,0.0001353981,0.0001821516,0.0007864816,0.00005499777,0.00006321882],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001364458,0.0002163731,0.1013158,0.00007921069,0.0002436834,0.0001776534,0.001119602,0.003431158,0.88502,0.0000685359,0.002112894,0.006078623],"study_design_scores_gemma":[0.009332829,0.002643201,0.4723095,0.0005717086,0.0002048265,0.00009962012,0.001806024,0.002522583,0.5000898,0.005583929,0.00409583,0.0007401106],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991798,0.003997608,0.00002265786,0.0007084469,0.0003241056,0.0007380855,0.00001783595,0.00001178824,0.002381493],"genre_scores_gemma":[0.9952818,0.003193265,0.0002611956,0.0001544692,0.0001289567,0.00007089721,0.00005190106,0.00004462808,0.0008129168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3849302,"threshold_uncertainty_score":0.7351809,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408532489","doi":"10.1016/j.gimo.2025.102136","title":"P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency*","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Calgary","funders":"","keywords":"Ornithine transcarbamylase deficiency; Ornithine transcarbamylase; Term (time); Ornithine Carbamoyltransferase; Phase (matter); Medicine; Pediatrics; Urea cycle; Chemistry; Ornithine; Biochemistry; Physics","authors":[{"name":"Cary O. Harding","is_ca":false},{"name":"Janet Thomas","is_ca":false},{"name":"Margo Sheck Breilyn","is_ca":false},{"name":"María L. Couce","is_ca":false},{"name":"Tarekegn Geberhiwot","is_ca":false},{"name":"Nathalie Guffon","is_ca":false},{"name":"Leticia Ceberio Hualde","is_ca":false},{"name":"Aneal Khan","is_ca":true},{"name":"Laura Konczal","is_ca":false},{"name":"Lipika Ghosh","is_ca":false},{"name":"J. Lawrence Merritt","is_ca":false},{"name":"Eric Crombez","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01401592623389333,"gpt":0.3148418543628226,"spread":0.3008259281289293,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006216132,0.0001987139,0.0005412629,0.0001711984,0.00002739441,0.000007844354,0.000467441,0.0001258654,0.000052012],"category_scores_gemma":[0.0001765907,0.0001583243,0.0000343262,0.0004144133,0.0002948384,0.000004130423,0.0001470136,0.0001087127,2.310701e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004172101,"about_ca_system_score_gemma":0.0002232745,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001919793,"about_ca_topic_score_gemma":0.00137205,"domain_scores_codex":[0.9983629,0.0001114261,0.000656234,0.0004301025,0.0001978518,0.0002414889],"domain_scores_gemma":[0.9991855,0.00004543862,0.0001519044,0.0004622529,0.00008470102,0.00007017576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"randomized_trial","study_design_gemma":"randomized_trial","study_design_scores_codex":[0.4056933,0.004979804,0.1619201,0.002248156,0.0003936886,0.00005733666,0.006517945,0.001184438,0.2429558,0.0005992955,0.001269067,0.1721811],"study_design_scores_gemma":[0.7507452,0.009909297,0.1517754,0.002280824,0.0003347813,0.00001340086,0.001584798,0.0001956365,0.08033621,0.0003171208,0.001865609,0.0006416591],"study_design_candidate":"randomized_trial","study_design_consensus":"randomized_trial","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876924,0.007194728,0.0007565777,0.0001773515,0.0001793537,0.001481801,0.0000250323,0.000001842769,0.002490874],"genre_scores_gemma":[0.9947692,0.003968848,0.0006307962,0.00009998278,0.00003380279,0.00004511205,0.00008969601,0.000014804,0.0003478042],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3450519,"threshold_uncertainty_score":0.6456277,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4388142592","doi":"10.1016/j.gimo.2023.100839","title":"Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Université de Montréal; McGill University; Centre Hospitalier de l’Université de Montréal","funders":"Japan Society for the Promotion of Science; Canadian Institutes of Health Research","keywords":"Open angle glaucoma; Identification (biology); Primary (astronomy); Ophthalmology; Glaucoma; Medicine; Biology; Physics; Botany","authors":[{"name":"Yukihiro Shiga","is_ca":true},{"name":"Kazuki Hashimoto","is_ca":false},{"name":"Kosuke Fujita","is_ca":false},{"name":"Shigeto Maekawa","is_ca":false},{"name":"Kota Sato","is_ca":false},{"name":"Shintaroh Kubo","is_ca":true},{"name":"Kazuhide Kawase","is_ca":false},{"name":"Kana Tokumo","is_ca":false},{"name":"Yoshiaki Kiuchi","is_ca":false},{"name":"Sotaro Mori","is_ca":false},{"name":"Makoto Nakamura","is_ca":false},{"name":"Takeshi Iwata","is_ca":false},{"name":"Koji M. Nishiguchi","is_ca":false},{"name":"Toru Nakazawa","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03580796237637787,"gpt":0.3324538547787211,"spread":0.2966458924023433,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001881042,0.0001869083,0.0006728996,0.0004301091,0.00004329383,0.00002757635,0.0009624928,0.0001331143,0.0001480753],"category_scores_gemma":[0.0003244331,0.0001565826,0.00004681437,0.001417233,0.0001730169,0.00008192797,0.0007687432,0.0002524864,0.00005202998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009589953,"about_ca_system_score_gemma":0.0002639401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006738976,"about_ca_topic_score_gemma":0.0003929145,"domain_scores_codex":[0.9976861,0.00009309142,0.0009682458,0.0004593665,0.0004427146,0.0003504899],"domain_scores_gemma":[0.998774,0.0001076488,0.000220491,0.0006742587,0.0001053514,0.0001182817],"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":[0.0009547721,0.001422393,0.3956115,0.0007551134,0.0001043632,0.0007832128,0.004201794,0.00003829256,0.5629453,0.001635001,0.008285283,0.02326301],"study_design_scores_gemma":[0.006915327,0.000531816,0.9836649,0.0007025665,0.0000774483,0.00008687725,0.001357294,0.001568342,0.00117602,0.001257185,0.002487759,0.0001745019],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9815342,0.001045153,0.000266193,0.003693645,0.0003177304,0.002283451,0.00001645265,0.00001986428,0.01082325],"genre_scores_gemma":[0.9927862,0.001450884,0.002141964,0.0007817511,0.00009026957,0.0001671957,0.000228115,0.00004988792,0.002303713],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5880534,"threshold_uncertainty_score":0.6385255,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4414001257","doi":"10.1016/j.gimo.2025.103453","title":"How does personal utility depend on clinical setting? Evidence from 3 cohorts","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Mount Sinai Hospital; York Central Hospital; Institute for Clinical Evaluative Sciences; McGill University Health Centre; Sinai Health System; Children's Hospital of Eastern Ontario; Holland Bloorview Kids Rehabilitation Hospital; BC Children's Hospital; University of Toronto; Canadian Patient Safety Institute; SickKids Foundation; University of British Columbia; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Pharmaceutical Research and Manufacturers of America Foundation; Canada Research Chairs; EuroQol Research Foundation; BC Children's Hospital; Canadian Fertility and Andrology Society","keywords":"Psychology; Medicine","authors":[{"name":"Elise Poole","is_ca":true},{"name":"Stephanie Luca","is_ca":true},{"name":"Daniel Assamad","is_ca":true},{"name":"Bowen Xiao","is_ca":true},{"name":"Joyce Yan","is_ca":true},{"name":"Lesleigh S. Abbott","is_ca":true},{"name":"Linlea Armstrong","is_ca":true},{"name":"Patricia Birch","is_ca":true},{"name":"Kym M. Boycott","is_ca":true},{"name":"June Carroll","is_ca":true},{"name":"Lauren Chad","is_ca":true},{"name":"David Chitayat","is_ca":true},{"name":"Avram Denburg","is_ca":true},{"name":"Rebecca Deyell","is_ca":true},{"name":"Alison M. Elliott","is_ca":true},{"name":"Catherine Goudie","is_ca":true},{"name":"Anne‐Marie Laberge","is_ca":true},{"name":"Melissa Maio","is_ca":true},{"name":"Iskra Peltekova","is_ca":true},{"name":"Becky Quinlan","is_ca":false},{"name":"Sarah L. Sawyer","is_ca":true},{"name":"Rachel Silver","is_ca":true},{"name":"Maureen E. Smith","is_ca":true},{"name":"Ronni Teitelbaum","is_ca":true},{"name":"Anita Villani","is_ca":true},{"name":"Wendy J. Ungar","is_ca":true},{"name":"Robin Z. Hayeems","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06051608608187535,"gpt":0.4156874577406088,"spread":0.3551713716587334,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001250147,0.0001875959,0.0003195409,0.00005985612,0.00007938682,0.00006698913,0.0008072252,0.0002226572,0.0001465471],"category_scores_gemma":[0.001507773,0.0001450523,0.00005595043,0.0001641176,0.000258101,0.000005608804,0.0005641831,0.0002713043,0.000005266084],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006353528,"about_ca_system_score_gemma":0.0004321419,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002094064,"about_ca_topic_score_gemma":0.001483487,"domain_scores_codex":[0.9980392,0.000268633,0.0004222894,0.0007757844,0.0002513315,0.0002427318],"domain_scores_gemma":[0.9987152,0.0002424214,0.0001151635,0.0007231723,0.0001198023,0.00008421425],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005360109,0.0001695413,0.7679114,0.0000450283,0.0002133686,0.00002505428,0.0004428533,0.00007044729,0.02483398,0.00004236327,0.07670116,0.1290088],"study_design_scores_gemma":[0.003743056,0.001068181,0.6867173,0.001106082,0.0001651527,0.000005061891,0.001538802,0.001421598,0.07423769,0.003128147,0.2262883,0.0005805751],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9761306,0.004222693,0.001562415,0.01229143,0.001454633,0.0006845263,0.00004427753,0.000007925517,0.00360147],"genre_scores_gemma":[0.9888103,0.001501427,0.004326017,0.002646583,0.0006317653,0.00007194951,0.00009622382,0.00001665819,0.00189908],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1495872,"threshold_uncertainty_score":0.5915062,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4412961724","doi":"10.1016/j.gimo.2025.103446","title":"Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Genome Canada","funders":"","keywords":"Variation (astronomy); Population; Biology; Medicine; Environmental health","authors":[{"name":"Ruchi Jain","is_ca":false},{"name":"Sami Bizzari","is_ca":false},{"name":"Sathishkumar Ramaswamy","is_ca":false},{"name":"Khaleem F. Hasham","is_ca":false},{"name":"Shruti Sinha","is_ca":false},{"name":"Ikram Chekroun","is_ca":false},{"name":"Fatma Rabea","is_ca":false},{"name":"Eman Abuijlan","is_ca":false},{"name":"Maha El Naofal","is_ca":false},{"name":"Massomeh Sheikh Hassani","is_ca":false},{"name":"Shruti Shenbagam","is_ca":false},{"name":"Alan Taylor","is_ca":false},{"name":"Mohammed Uddin","is_ca":true},{"name":"Mohamed A. Almarri","is_ca":false},{"name":"Omer S. Alkhnbashi","is_ca":false},{"name":"Hamda Khansaheb","is_ca":false},{"name":"Hanan Al Suwaidi","is_ca":false},{"name":"Stefan S. du Plessis","is_ca":false},{"name":"Stephany El‐Hayek","is_ca":false},{"name":"Alawi Alsheikh‐Ali","is_ca":false},{"name":"Ahmad Abou Tayoun","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06279727002750998,"gpt":0.3839181807774084,"spread":0.3211209107498985,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000211807,0.0001153368,0.0001647486,0.00010163,0.00009528117,0.00005074105,0.00036888,0.00008417604,0.000005035812],"category_scores_gemma":[0.0001016126,0.0001123605,0.00003379921,0.0002116114,0.00003234771,0.000007177169,0.0001496201,0.00004590707,2.17133e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002546816,"about_ca_system_score_gemma":0.0001013897,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001268652,"about_ca_topic_score_gemma":0.0008492597,"domain_scores_codex":[0.9990274,0.00005567438,0.0002994158,0.0003720689,0.00005669308,0.0001887445],"domain_scores_gemma":[0.9993926,0.00001981708,0.00007152094,0.0003682591,0.00008016176,0.00006767937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002004222,0.0003139031,0.8178753,0.00008887427,0.00004614016,0.000003061446,0.0001913442,0.002842427,0.03613688,0.003030144,0.0003374797,0.138934],"study_design_scores_gemma":[0.00145353,0.0002224839,0.9865704,0.0001013371,0.00004221647,0.000001629662,0.0002668344,0.001081299,0.000075315,0.008529107,0.001509974,0.0001459148],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9761577,0.002893992,0.01751848,0.001218479,0.0001460186,0.00170851,0.00006128281,0.000008591717,0.0002869783],"genre_scores_gemma":[0.99125,0.0002321748,0.005374509,0.0003882975,0.0001042783,0.0003669091,0.002193091,0.00001553945,0.00007516608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1686951,"threshold_uncertainty_score":0.458193,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392767858","doi":"10.1016/j.gimo.2024.101837","title":"Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Montreal Clinical Research Institute; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; CHU Sainte-Justine Foundation","keywords":"Osteopenia; Phenotype; Medicine; Genetics; Internal medicine; Biology; Gene; Bone mineral; Osteoporosis","authors":[{"name":"Éliane Beauregard‐Lacroix","is_ca":true},{"name":"Alexandra J. Scott","is_ca":true},{"name":"Thi Tuyet Mai Nguyen","is_ca":true},{"name":"Klaas J. Wierenga","is_ca":false},{"name":"Gabriela Purcarin","is_ca":false},{"name":"Anne B. Karstensen","is_ca":false},{"name":"Daniel R. Carvalho","is_ca":false},{"name":"Jean‐Luc Alessandri","is_ca":false},{"name":"Frédérique Payet","is_ca":false},{"name":"Katta M. Girisha","is_ca":false},{"name":"Mathieu Ferron","is_ca":true},{"name":"Philippe M. Campeau","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06848407757394671,"gpt":0.301273937225691,"spread":0.2327898596517443,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000734185,0.0001532779,0.0002949682,0.0002041822,0.00007469307,0.00004941207,0.0005484754,0.00007590977,0.0007283608],"category_scores_gemma":[0.00007141021,0.00009961709,0.00001841583,0.0002499292,0.0001944004,0.00009386012,0.0004672721,0.000352805,0.0002086391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004234434,"about_ca_system_score_gemma":0.00005435413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005482386,"about_ca_topic_score_gemma":0.0005528959,"domain_scores_codex":[0.9987978,0.0002586,0.0003095926,0.0002896336,0.00003920202,0.000305215],"domain_scores_gemma":[0.9994177,0.00023151,0.00002604488,0.0002997864,0.000009302162,0.00001569701],"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":[0.001317759,0.0001687206,0.001189109,0.000263269,0.000384479,0.001041227,0.03303886,0.0000342587,0.7484229,0.09854691,0.004855399,0.1107371],"study_design_scores_gemma":[0.01302886,0.006940371,0.3121057,0.006878676,0.0002876122,0.005451286,0.03651988,0.0004258327,0.2788166,0.06818169,0.2695473,0.001816245],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9671938,0.02017643,0.0001291852,0.004908217,0.001845178,0.0005893733,0.000003649604,0.00002569177,0.005128414],"genre_scores_gemma":[0.9936603,0.001981224,0.00008879619,0.0003482224,0.00002329985,0.00007480008,0.000009902507,0.00002077292,0.003792657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4696063,"threshold_uncertainty_score":0.797504,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4410488639","doi":"10.1016/j.gimo.2025.103438","title":"Genomic insights into Rett syndrome-like features in Bangladeshi participants","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Queen's University; Genome Canada","funders":"Al Jalila Foundation","keywords":"MECP2; Rett syndrome; Genetics; Exome sequencing; Frameshift mutation; Medical genetics; Missense mutation; Biology; Genomics; Sanger sequencing; Phenotype; Gene; DNA sequencing; Bioinformatics; Genome","authors":[{"name":"Hosneara Akter","is_ca":false},{"name":"Muhammad Mizanur Rahman","is_ca":false},{"name":"Rabeya Akter Mim","is_ca":false},{"name":"Atikur Rahaman","is_ca":false},{"name":"Tamannyat Binte Eshaque","is_ca":false},{"name":"Farjana Binta Omar","is_ca":false},{"name":"Masuma Afrin Taniya","is_ca":false},{"name":"Amirul Islam","is_ca":true},{"name":"Bassam Jamalalail","is_ca":false},{"name":"Nasna Nassir","is_ca":false},{"name":"Binte Zehra","is_ca":false},{"name":"Shaoli Sarker","is_ca":false},{"name":"K. M. Furkan Uddin","is_ca":false},{"name":"AHM Nurun Nabi","is_ca":false},{"name":"Marc Woodbury‐Smith","is_ca":true},{"name":"Mohammed Uddin","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01863632564722163,"gpt":0.3065173887604736,"spread":0.287881063113252,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003175524,0.0002362937,0.0003276406,0.0002215859,0.00006524617,0.00003469294,0.0008553328,0.0001806456,0.00004570691],"category_scores_gemma":[0.0001005906,0.0002209106,0.00003087145,0.000399645,0.0001516147,0.000003768336,0.0008022333,0.0001961479,0.00001228249],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000478661,"about_ca_system_score_gemma":0.0001903454,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002878181,"about_ca_topic_score_gemma":0.003913744,"domain_scores_codex":[0.998253,0.0001128286,0.0004561731,0.0006059938,0.0001596538,0.0004123074],"domain_scores_gemma":[0.9992667,0.00001966355,0.00006583575,0.0005141915,0.00003663808,0.00009697211],"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":[0.0002602791,0.0002861664,0.1725274,0.0001197243,0.00009545864,0.0001401519,0.001712307,0.0008884431,0.793812,0.0002896817,0.02030715,0.009561172],"study_design_scores_gemma":[0.002695938,0.0003720874,0.9280841,0.0002026456,0.00002088875,0.000008325875,0.0005895125,0.00007421,0.02079562,0.002497791,0.04431976,0.0003390647],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9817827,0.008212248,0.00003316177,0.0009324691,0.0004292545,0.0006413678,0.000001478507,0.000004848998,0.007962464],"genre_scores_gemma":[0.9916952,0.002851199,0.0009636218,0.002355564,0.00002089917,0.00009543353,0.00007419405,0.00002586284,0.00191804],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7730164,"threshold_uncertainty_score":0.9008473,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392607101","doi":"10.1016/j.gimo.2024.101376","title":"P477: Barriers and facilitators to implementing genomic medicine: A scoping review of the global landscape*","year":2024,"lang":"en","type":"review","venue":"Genetics in Medicine Open","topic":"Biotechnology and Related Fields","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of British Columbia; University of Toronto; Institute for Clinical Evaluative Sciences; SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Genomic medicine; Engineering ethics; Medicine; Computational biology; Engineering; Biology","authors":[{"name":"Whiwon Lee","is_ca":true},{"name":"Joyce Yan","is_ca":true},{"name":"Katharine Fooks","is_ca":true},{"name":"Abby Tafler","is_ca":true},{"name":"Pooja Banglorewala","is_ca":true},{"name":"Melanie Barwick","is_ca":true},{"name":"Mark Dobrow","is_ca":true},{"name":"Jan M. Friedman","is_ca":true},{"name":"Christian Marshall","is_ca":true},{"name":"Robin Z. Hayeems","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04882557392763542,"gpt":0.4385389378142981,"spread":0.3897133638866627,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001896637,0.0004169504,0.002671312,0.0002312797,0.00007928759,0.000008662693,0.0008345959,0.001294494,0.000378256],"category_scores_gemma":[0.0009210146,0.0002168633,0.0001523813,0.001244268,0.0004264769,0.00001389024,0.001417977,0.001956942,0.00001594506],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001164523,"about_ca_system_score_gemma":0.0007379964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008681071,"about_ca_topic_score_gemma":0.00009417978,"domain_scores_codex":[0.9970827,0.0001782084,0.001419021,0.0005964481,0.0003272484,0.0003964534],"domain_scores_gemma":[0.9985,0.0001059144,0.0003138178,0.0007971451,0.00006057048,0.0002224848],"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":[0.00001246338,0.00000914299,0.0006232665,0.4447268,0.0004553314,0.00006111692,0.0003340634,1.987706e-7,0.000003447529,0.0005377646,0.02195517,0.5312812],"study_design_scores_gemma":[0.0003614892,0.0001587019,0.0000320405,0.5416423,0.001990229,0.0001476697,0.0001810076,0.000001379287,6.36986e-7,0.00006547689,0.4552999,0.0001191296],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00003616769,0.9754283,0.000009044761,0.01383522,0.0005920398,0.004655588,0.00003251088,0.00001857312,0.005392532],"genre_scores_gemma":[0.00001723309,0.9967533,0.0002540069,0.002429453,0.0001575005,0.0001196431,0.0000280317,0.00003293162,0.0002079341],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.5311621,"threshold_uncertainty_score":0.9984326,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4412027322","doi":"10.1016/j.gimo.2025.103442","title":"Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"McMaster University; Impact; Sinai Health System; Princess Margaret Cancer Centre; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; Western University; University of Toronto; Health Sciences North; London Health Sciences Centre; University of Ottawa; Windsor Regional Hospital; Ottawa Hospital; St. Joseph’s Healthcare Hamilton; Victoria Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children; Public Health Ontario","funders":"Schulich School of Medicine and Dentistry; Western University; Academic Medical Organization of Southwestern Ontario","keywords":"Kidney disease; Genetic testing; Medicine; Computational biology; Environmental science; Internal medicine; Biology","authors":[{"name":"Angela Du","is_ca":true},{"name":"Kaitlyn Lemay","is_ca":true},{"name":"Amit Bagga","is_ca":true},{"name":"Priya T. Bhola","is_ca":true},{"name":"Pierre Antoine Brown","is_ca":true},{"name":"Samantha Colaiacovo","is_ca":true},{"name":"George S. Charames","is_ca":true},{"name":"Mathieu Lemaire","is_ca":true},{"name":"Matthew B. Lanktree","is_ca":true},{"name":"Laila C. Schenkel","is_ca":true},{"name":"Nicholas A. Watkins","is_ca":true},{"name":"Wilson Yu","is_ca":true},{"name":"Kathleen Bell","is_ca":true},{"name":"Raymond H. Kim","is_ca":true},{"name":"Dervla M. Connaughton","is_ca":true},{"name":"Andrea Guerin","is_ca":false},{"name":"Muna Aden","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06948552478136698,"gpt":0.3959750654026796,"spread":0.3264895406213126,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005170945,0.0001885718,0.000524224,0.0002626562,0.0001023984,0.00003850441,0.0002825905,0.00008561465,0.0002185071],"category_scores_gemma":[0.003612743,0.0001640108,0.0000718089,0.0004494243,0.00009097554,0.00003618489,0.0001494506,0.0002400315,0.000001612869],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005526159,"about_ca_system_score_gemma":0.002610222,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004015075,"about_ca_topic_score_gemma":0.01213233,"domain_scores_codex":[0.9984049,0.00004398928,0.0005924316,0.0004162992,0.0001725269,0.0003698778],"domain_scores_gemma":[0.9984221,0.0005716227,0.00009630789,0.0004298137,0.0001825117,0.0002976737],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003990624,0.0005778244,0.7980638,0.002685025,0.0001881957,0.00006509281,0.001308503,0.0009908812,0.0005114971,0.006437023,0.05843778,0.1267438],"study_design_scores_gemma":[0.01675203,0.001277023,0.614799,0.01152607,0.0005225625,0.000002485992,0.000316603,0.005127618,0.0001018725,0.1035277,0.2457134,0.000333689],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.4152274,0.04021524,0.2851215,0.1957185,0.0048087,0.04185115,0.001129169,0.0001606372,0.01576778],"genre_scores_gemma":[0.3936503,0.002031387,0.5780067,0.01320377,0.0008836249,0.0047033,0.001025766,0.0001147678,0.006380299],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.2928853,"threshold_uncertainty_score":0.6770123,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408532674","doi":"10.1016/j.gimo.2025.102035","title":"O10: Early detection of BRCA1/2-associated cancers through multi-modal cell-free DNA analysis","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Princess Margaret Cancer Centre; Ontario Institute for Cancer Research; Jewish General Hospital; University of Toronto","funders":"","keywords":"DNA; Modal; Cancer research; Cell-free fetal DNA; Computational biology; Biology; Genetics; Chemistry","authors":[{"name":"Erik Ensminger","is_ca":true},{"name":"Ping Luo","is_ca":true},{"name":"Derek Wong","is_ca":true},{"name":"Julia A. Sobotka","is_ca":true},{"name":"Leslie E. Oldfield","is_ca":true},{"name":"Kirsten M. Farncombe","is_ca":true},{"name":"Adriana Aguilar‐Mahecha","is_ca":true},{"name":"Jenna Eagles","is_ca":true},{"name":"Helia Purnaghshband","is_ca":true},{"name":"Stephanie Pederson","is_ca":true},{"name":"Lawrence E. Heisler","is_ca":true},{"name":"Bernard Lam","is_ca":true},{"name":"Mark Basik","is_ca":true},{"name":"Trevor J. Pugh","is_ca":true},{"name":"Raymond H. Kim","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01550947603662159,"gpt":0.3091927571874646,"spread":0.293683281150843,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003386352,0.0001671385,0.0003984879,0.0001530487,0.00005591537,0.00002087612,0.0007364379,0.0001835734,0.00002217812],"category_scores_gemma":[0.0003340661,0.0001683102,0.00008824179,0.0007458418,0.0001367251,0.000003520915,0.0005050154,0.0001178318,0.00000100882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000122838,"about_ca_system_score_gemma":0.0002518734,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.007854179,"about_ca_topic_score_gemma":0.02091578,"domain_scores_codex":[0.998691,0.00006671829,0.0004390656,0.0004054192,0.0001538441,0.0002439125],"domain_scores_gemma":[0.9988875,0.0000459161,0.0001824826,0.0006769797,0.0001546584,0.0000525069],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003366914,0.0003087558,0.1108696,0.00007751057,0.001207131,0.000008698865,0.0008950182,0.01188448,0.8637928,0.000141765,0.005252708,0.005224828],"study_design_scores_gemma":[0.01035191,0.001209436,0.2687306,0.0001486336,0.001233056,9.169804e-7,0.0008385958,0.003706382,0.6989725,0.001126128,0.01313477,0.0005470722],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9812739,0.003076613,0.008219898,0.0002749634,0.0003960566,0.0004539067,0.00006852627,0.000004591301,0.006231577],"genre_scores_gemma":[0.9948524,0.002290642,0.001433267,0.0004503767,0.00008401732,0.00004014666,0.00009692131,0.00001590612,0.0007362986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1648203,"threshold_uncertainty_score":0.9987526,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4410488650","doi":"10.1016/j.gimo.2025.103437","title":"Systematic phenotype and genotype characterization of Moebius syndrome","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Pectus Deformity Diagnosis and Treatment","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University","funders":"National Institute of Child Health and Human Development; Icahn School of Medicine at Mount Sinai; National Institute on Deafness and Other Communication Disorders; National Eye Institute; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institutes of Health; National Heart, Lung, and Blood Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Boston Children's Hospital; Harvard University; National Institute of General Medical Sciences; Harvard Medical School; Harvard Catalyst; Howard Hughes Medical Institute","keywords":"Genetics; Exome sequencing; Biology; Phenotype; Candidate gene; Gene; Exome; Bioinformatics","authors":[{"name":"Bryn D. Webb","is_ca":false},{"name":"Julie A. Jurgens","is_ca":false},{"name":"Narisu Narisu","is_ca":false},{"name":"Zhongyang Zhang","is_ca":false},{"name":"Brenda J. Barry","is_ca":false},{"name":"Carol Van Ryzin","is_ca":false},{"name":"Lori L. Bonnycastle","is_ca":false},{"name":"Wai‐Man Chan","is_ca":false},{"name":"Tingfen Yan","is_ca":false},{"name":"Silvio Alessandro Di Gioia","is_ca":false},{"name":"Amy J. Swift","is_ca":false},{"name":"Sarah MacKinnon","is_ca":false},{"name":"Darren T. Oystreck","is_ca":true},{"name":"Janet C. Rucker","is_ca":false},{"name":"Tamiesha Frempong","is_ca":false},{"name":"Mary C. Whitman","is_ca":false},{"name":"Edmond J. FitzGibbon","is_ca":false},{"name":"Janice S. Lee","is_ca":false},{"name":"Ke Hao","is_ca":false},{"name":"Caroline Andrews","is_ca":false},{"name":"Mónica Erazo","is_ca":false},{"name":"Flavia M. Facio","is_ca":false},{"name":"Sherin Shaaban","is_ca":false},{"name":"Thomas P. Naidich","is_ca":false},{"name":"Peter S. Chines","is_ca":false},{"name":"Tanya Lehky","is_ca":false},{"name":"Camilo Toro","is_ca":false},{"name":"Andrea Gropman","is_ca":false},{"name":"John A. Butman","is_ca":false},{"name":"Christopher Zalewski","is_ca":false},{"name":"Carmen C. Brewer","is_ca":false},{"name":"Audrey Thurm","is_ca":false},{"name":"Joseph Snow","is_ca":false},{"name":"Scott M. Paul","is_ca":false},{"name":"Brian P. Brooks","is_ca":false},{"name":"Carlo Pierpaoli","is_ca":false},{"name":"Caroline D. Robson","is_ca":false},{"name":"David G. Hunter","is_ca":false},{"name":"Francis S. Collins","is_ca":false},{"name":"Ethylin Wang Jabs","is_ca":false},{"name":"Elizabeth C. Engle","is_ca":false},{"name":"Irini Manoli","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02061162256522807,"gpt":0.3175961361354014,"spread":0.2969845135701733,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002895638,0.0001084697,0.000613287,0.0001727241,0.00002231006,0.000009777581,0.0001286395,0.00005760276,0.0000556243],"category_scores_gemma":[0.0001371205,0.00007766217,0.00001797246,0.0002719328,0.00006857497,0.00002779492,0.0001272795,0.00006655473,0.000005551448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005832685,"about_ca_system_score_gemma":0.00006955038,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001744512,"about_ca_topic_score_gemma":0.00003998448,"domain_scores_codex":[0.9990764,0.00003978222,0.0004328087,0.0001818761,0.0001491569,0.0001200213],"domain_scores_gemma":[0.9994181,0.00005439342,0.0001052174,0.0002988538,0.00006969213,0.00005373377],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007294046,0.002369492,0.7874823,0.08384047,0.001889257,0.0006298684,0.004994306,0.00002899288,0.07227223,0.01197734,0.0005453564,0.03324098],"study_design_scores_gemma":[0.003035797,0.0006891635,0.9798327,0.01301738,0.0004386471,0.00006201899,0.0001655399,0.0003498788,0.001557278,0.0005954768,0.0001676144,0.00008851854],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9894592,0.002723735,0.0001166387,0.001153499,0.0001292599,0.001513112,0.000004511186,0.000007129874,0.004892966],"genre_scores_gemma":[0.9970219,0.001302266,0.0004314803,0.0004396255,0.00001610775,0.0000594611,0.00003834051,0.000008919858,0.0006819213],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1923504,"threshold_uncertainty_score":0.3166971,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392588812","doi":"10.1016/j.gimo.2024.101220","title":"P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Fetal and Pediatric Neurological Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Jewish General Hospital","funders":"","keywords":"Cardiology; Medicine; Internal medicine","authors":[{"name":"Tania Cruz Mariño","is_ca":true},{"name":"Josianne Leblanc","is_ca":true},{"name":"Annabelle Pratte","is_ca":true},{"name":"Jessica Tardif","is_ca":true},{"name":"Marie‐Jacqueline Thomas","is_ca":true},{"name":"Frédérique Leclerc","is_ca":true},{"name":"Jonathan Beaudoin","is_ca":true},{"name":"Melinda Barabas","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01871097089966976,"gpt":0.2894262873073281,"spread":0.2707153164076583,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006556836,0.0002924553,0.0008252426,0.0003875316,0.00003448771,0.00004978945,0.0004245776,0.0001836259,0.0002786718],"category_scores_gemma":[0.0002483138,0.0001850351,0.00009877351,0.001268151,0.0002157821,0.00006449106,0.000218457,0.0007296557,0.00004487919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005832344,"about_ca_system_score_gemma":0.0001557359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008301775,"about_ca_topic_score_gemma":0.0003184659,"domain_scores_codex":[0.9976659,0.0001699436,0.0003936237,0.0006579948,0.0006700133,0.0004424946],"domain_scores_gemma":[0.9990489,0.0001668701,0.00003677627,0.0005019554,0.00005683116,0.0001886407],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001912333,0.001600713,0.643003,0.006040492,0.003418569,0.06458673,0.00969644,0.005310806,0.00233839,0.002532424,0.09247894,0.1670811],"study_design_scores_gemma":[0.006777604,0.003809865,0.9639809,0.001428687,0.0005834069,0.001153165,0.0004663195,0.0003235583,0.0001050735,0.001142873,0.01977444,0.0004541466],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9562669,0.02202914,0.00003735147,0.005215558,0.0003162547,0.00182867,0.00001173025,0.00007166973,0.01422275],"genre_scores_gemma":[0.9932706,0.002954624,0.0006550718,0.001876501,0.000184363,0.0001312416,0.00007639307,0.00004740751,0.0008037663],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3209778,"threshold_uncertainty_score":0.7545514,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392589435","doi":"10.1016/j.gimo.2024.101748","title":"P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"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":"","keywords":"Kabuki syndrome; Kabuki; Profiling (computer programming); Computational biology; DNA methylation; Genetics; Biology; Computer science; Gene; Programming language; Gene expression; Art","authors":[{"name":"Sanaa Choufani","is_ca":true},{"name":"Rosanna Weksberg","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.03829122887294246,"gpt":0.3422263183829483,"spread":0.3039350895100059,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007208533,0.0001206997,0.0002577753,0.000133229,0.0000133008,0.00001278116,0.0003598095,0.0001149119,0.00002225473],"category_scores_gemma":[0.0001518166,0.0001064436,0.00003312873,0.0002907118,0.00009380857,0.000005153233,0.00013822,0.0000845473,7.267789e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003013459,"about_ca_system_score_gemma":0.0003180433,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002486355,"about_ca_topic_score_gemma":0.0001234928,"domain_scores_codex":[0.9987646,0.00008688403,0.0005080015,0.0003513301,0.0001371418,0.0001520835],"domain_scores_gemma":[0.9993908,0.00002665675,0.0001260826,0.0003212751,0.00009012422,0.00004510792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007722222,0.00006373303,0.002811306,0.0002175361,0.00003242007,0.00001200981,0.0001903929,0.0004133666,0.9830046,0.0002348248,0.00006698941,0.01287558],"study_design_scores_gemma":[0.003254338,0.00167356,0.3929298,0.001510382,0.0001377528,0.00003140706,0.002201062,0.0281762,0.5640429,0.003345949,0.002117148,0.0005795218],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918089,0.005050629,0.001015606,0.0002255817,0.0002106319,0.0007124177,0.00004391657,0.000002992314,0.0009293455],"genre_scores_gemma":[0.9964495,0.0009905428,0.00212176,0.00002922576,0.00005338231,0.00005259164,0.0001858792,0.00001879192,0.00009835283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4189617,"threshold_uncertainty_score":0.4340645,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4324117130","doi":"10.1016/j.gimo.2023.100445","title":"P409: Clinical utility of genomic sequencing for hereditary cancer syndromes: An observational chart review","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre for Global Health Research; Sinai Health System; University Health Network; Health Sciences Centre; Sunnybrook Health Science Centre","funders":"","keywords":"Observational study; Genomic sequencing; Computational biology; Cancer; Medicine; Biology; Genetics; Bioinformatics; Internal medicine; Genome; Gene","authors":[{"name":"Salma Shickh","is_ca":true},{"name":"Chloe Mighton","is_ca":true},{"name":"Marc Clausen","is_ca":true},{"name":"Rita Kodida","is_ca":true},{"name":"Jordan Sam","is_ca":true},{"name":"Daena Hirjikaka","is_ca":true},{"name":"Emma Reble","is_ca":true},{"name":"Tracy Graham","is_ca":true},{"name":"Seema Panchal","is_ca":true},{"name":"Andrea Eisen","is_ca":true},{"name":"Christine Elser","is_ca":true},{"name":"Kasmintan A. Schrader","is_ca":false},{"name":"Nancy N. Baxter","is_ca":true},{"name":"Andreas Laupacis","is_ca":true},{"name":"Jordan Lerner‐Ellis","is_ca":true},{"name":"Raymond H. Kim","is_ca":true},{"name":"Yvonne Bombard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.3573887565649518,"gpt":0.4879038114372616,"spread":0.1305150548723098,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001404966,0.0001277539,0.0003805454,0.00003820865,0.00004248811,0.000006190608,0.00055737,0.00009949724,0.0001385797],"category_scores_gemma":[0.0002673233,0.000112343,0.00007543465,0.0001290039,0.0001291407,0.000004155333,0.0002699392,0.0000719895,0.000003576679],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001691764,"about_ca_system_score_gemma":0.000464206,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001476608,"about_ca_topic_score_gemma":0.0002065326,"domain_scores_codex":[0.9985424,0.00009203862,0.0006211006,0.000404033,0.0001322136,0.0002082697],"domain_scores_gemma":[0.9990876,0.00004849983,0.0001491315,0.0004510253,0.0001528175,0.0001109322],"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":[0.0007232999,0.0005552231,0.3543883,0.005999481,0.0006437037,0.0001134827,0.0005331604,0.001224467,0.1833556,0.0002679515,0.3770079,0.07518743],"study_design_scores_gemma":[0.003458512,0.00159903,0.8540441,0.002027196,0.0002440269,0.00003251442,0.000764122,0.003915412,0.002274399,0.001903533,0.1291334,0.0006036465],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9743735,0.02256656,0.00006161223,0.001095825,0.000444087,0.0009838544,0.0002450616,0.000005341989,0.000224209],"genre_scores_gemma":[0.910823,0.07999111,0.002053058,0.003223066,0.0008842805,0.0002948364,0.002308095,0.00004367887,0.0003788149],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4996558,"threshold_uncertainty_score":0.4581213,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4324116982","doi":"10.1016/j.gimo.2023.100590","title":"P543: Comparing the analytical performance of exome sequencing and traditional panel testing in a cancer population","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University Health Network","funders":"","keywords":"Exome sequencing; Computational biology; Exome; Cancer; Biology; Computer science; Medicine; Genetics; Mutation; Gene","authors":[{"name":"Emma Reble","is_ca":false},{"name":"Jordan Sam","is_ca":false},{"name":"Rita Kodida","is_ca":false},{"name":"Marc Clausen","is_ca":false},{"name":"Salma Shickh","is_ca":false},{"name":"Chloe Mighton","is_ca":false},{"name":"José‐Mario Capo‐Chichi","is_ca":true},{"name":"Elena Greenfeld","is_ca":false},{"name":"Abdul Noor","is_ca":false},{"name":"Raymond H. Kim","is_ca":true},{"name":"Jordan Lerner‐Ellis","is_ca":false},{"name":"Yvonne Bombard","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.2287152356561204,"gpt":0.3583348882762627,"spread":0.1296196526201423,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000469098,0.00007283705,0.0001551522,0.00006606797,0.00003789191,0.00001148769,0.0001879396,0.00004403865,0.000006403551],"category_scores_gemma":[0.000188573,0.0000589161,0.000009129452,0.0002674466,0.00008607379,0.000002977508,0.0001792775,0.00008424343,3.827281e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000365796,"about_ca_system_score_gemma":0.00007968146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001318874,"about_ca_topic_score_gemma":0.001203873,"domain_scores_codex":[0.9992975,0.00002521735,0.0002521388,0.0001763178,0.0001065461,0.000142297],"domain_scores_gemma":[0.9996481,0.00008654967,0.00006156522,0.0001395975,0.0000331262,0.00003107421],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000337605,0.00001178222,0.9463118,0.00004173656,0.00000967621,0.000003237386,0.0002495925,0.02821293,0.02012497,0.0001659811,0.0002099391,0.004624554],"study_design_scores_gemma":[0.0006491921,0.0001514989,0.899177,0.0001534996,0.00001113569,0.000005976122,0.0002219055,0.09812575,0.0009517329,0.0003004494,0.0001718261,0.00008001191],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998207,0.0005561931,0.00001290947,0.0003244144,0.00007757196,0.0001929181,0.000008017541,0.000001802603,0.0006191377],"genre_scores_gemma":[0.9981471,0.001161063,0.0002830049,0.0001368308,0.0001491501,0.00002796688,0.00005843827,0.000008731307,0.00002776907],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06991282,"threshold_uncertainty_score":0.2402529,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4409727573","doi":"10.1016/j.gimo.2025.103431","title":"Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Retinoids in leukemia and cellular processes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill Genome Centre; McGill University Health Centre; McGill University","funders":"Foundation Fighting Blindness","keywords":"Population; Genetics; Zellweger syndrome; Biology; Population genetics; Medicine; Environmental health; Peroxisome; Gene","authors":[{"name":"Karen E. Malone","is_ca":false},{"name":"Catherine Argyriou","is_ca":true},{"name":"Evelyn M. Zavacky","is_ca":true},{"name":"Nancy Braverman","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.008938087744106494,"gpt":0.2973565015670649,"spread":0.2884184138229584,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003672532,0.0001619762,0.0002351463,0.0001001879,0.00005769734,0.00002239448,0.0003028448,0.0001675287,0.00001692324],"category_scores_gemma":[0.0002104301,0.0001538248,0.00001909107,0.0002294485,0.00007908812,0.00000905964,0.0002196946,0.00009533708,6.088641e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002429269,"about_ca_system_score_gemma":0.00005673349,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004030361,"about_ca_topic_score_gemma":0.0001032854,"domain_scores_codex":[0.9987124,0.0000753448,0.0004761168,0.0003805442,0.0001784494,0.0001771507],"domain_scores_gemma":[0.999422,0.00002424251,0.0001384792,0.0003141687,0.00005817606,0.00004290349],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0001954922,0.0001534357,0.6766783,0.001056112,0.00006750914,0.000001638721,0.0003066502,0.1310403,0.1489655,0.0003221998,0.0008690689,0.04034382],"study_design_scores_gemma":[0.0044013,0.0007859811,0.1093064,0.0009313569,0.0001866033,0.000009249025,0.0004109752,0.7938157,0.07870794,0.009267881,0.00144994,0.0007266386],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9633874,0.01081288,0.02440686,0.000240268,0.0001190798,0.000477504,0.00001078065,0.00000585207,0.0005393226],"genre_scores_gemma":[0.9906187,0.0061338,0.00212145,0.0001071086,0.00004822976,0.00002326737,0.0005523536,0.00001800248,0.0003770737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6627755,"threshold_uncertainty_score":0.6272794,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408694309","doi":"10.1016/j.gimo.2025.103425","title":"Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Hospital for Sick Children","funders":"University of Colorado School of Medicine, Anschutz Medical Campus; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Texas Children's Hospital; National Human Genome Research Institute; Hospital for Sick Children; Great Ormond Street Institute of Child Health; Oxford University Hospitals NHS Foundation Trust; Great Ormond Street Hospital for Children; Tel Aviv University; Seoul National University; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; Children's Hospital of Philadelphia; Lunds Universitet; Chungbuk National University; Quest Diagnostics; Centre National de la Recherche Scientifique; NIHR Great Ormond Street Hospital Biomedical Research Centre; Seoul National University Hospital; Nationwide Children's Hospital; University Hospital Southampton NHS Foundation Trust; University of Oxford; College of Medicine, Seoul National University; Institut National de la Santé et de la Recherche Médicale; Kaiser Permanente","keywords":"Neurodevelopmental disorder; Neuroscience; Psychology; Medicine; Developmental psychology","authors":[{"name":"Bobby G. Ng","is_ca":false},{"name":"Erik A. Eklund","is_ca":false},{"name":"Jill A. Rosenfeld","is_ca":false},{"name":"Abdallah F. Elias","is_ca":false},{"name":"Aya Abu‐El‐Haija","is_ca":false},{"name":"Céline Bris","is_ca":false},{"name":"Magalie Barth","is_ca":false},{"name":"Jong‐Hee Chae","is_ca":false},{"name":"Murim Choi","is_ca":false},{"name":"Holly Dubbs","is_ca":false},{"name":"Carl Fratter","is_ca":false},{"name":"Nicola Foulds","is_ca":false},{"name":"Candace Gamble","is_ca":false},{"name":"Ralitza H. Gavrilova","is_ca":false},{"name":"Jaclyn Haven","is_ca":false},{"name":"Trevor L. Hoffman","is_ca":false},{"name":"Jill V. Hunter","is_ca":false},{"name":"Austin Larson","is_ca":false},{"name":"Timothy E. Lotze","is_ca":false},{"name":"Pilar Magoulas","is_ca":false},{"name":"Emily Magness","is_ca":false},{"name":"Debra M Bootin","is_ca":false},{"name":"Eric D. Marsh","is_ca":false},{"name":"Victoria Nesbitt","is_ca":false},{"name":"Matthew Pastore","is_ca":false},{"name":"Joanna Poulton","is_ca":false},{"name":"Shamima Rahman","is_ca":false},{"name":"Fernando Scaglia","is_ca":false},{"name":"Chaya N. Murali","is_ca":false},{"name":"Jennifer E. Posey","is_ca":false},{"name":"Joshua Rotenberg","is_ca":false},{"name":"Betsy Schmalz","is_ca":false},{"name":"Deepali N. Shinde","is_ca":false},{"name":"Zöe Powis","is_ca":false},{"name":"Rivka Sukenik‐Halevy","is_ca":false},{"name":"Kristen Truxal","is_ca":false},{"name":"Tami Uster","is_ca":true},{"name":"Matheus Vernet Machado Bressan Wilke","is_ca":false},{"name":"Eric W. Klee","is_ca":false},{"name":"H. Woo","is_ca":false},{"name":"Donald Younkin","is_ca":false},{"name":"Jorge L. Granadillo","is_ca":false},{"name":"Seema R. Lalani","is_ca":false},{"name":"David Chitayat","is_ca":true},{"name":"Wendy K. Chung","is_ca":false},{"name":"Hudson H. Freeze","is_ca":false},{"name":"Volkan Okur","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.009116220133465787,"gpt":0.2999769854427629,"spread":0.2908607653092971,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002444561,0.0002729173,0.0003428498,0.0001562661,0.0001642667,0.00004633542,0.0003409314,0.0002002603,0.0001014293],"category_scores_gemma":[0.0001479478,0.0002217991,0.000025578,0.0002759011,0.0002835951,0.00001167947,0.000425401,0.0001805963,0.000002806784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001339453,"about_ca_system_score_gemma":0.0001580774,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000139616,"about_ca_topic_score_gemma":0.002320251,"domain_scores_codex":[0.9982113,0.0002235458,0.000392747,0.0006879375,0.0001462739,0.0003381931],"domain_scores_gemma":[0.9993836,0.00004028041,0.00009064128,0.0003280187,0.0000499583,0.0001075388],"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":[0.002044113,0.0003666574,0.1874931,0.00007385076,0.0001265639,0.00007534851,0.001393807,0.0004791353,0.7772452,0.001262393,0.004887471,0.02455236],"study_design_scores_gemma":[0.0534288,0.01288281,0.3165239,0.0007101502,0.0003478085,0.0004670269,0.007363766,0.003601366,0.05293774,0.00138992,0.5476819,0.002664756],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906417,0.001096093,0.002307699,0.001271403,0.0009952827,0.0007791069,0.000005319062,0.0000118998,0.002891471],"genre_scores_gemma":[0.9878013,0.0004937083,0.004483715,0.002022183,0.0002914955,0.0001249805,0.0003368758,0.00005283219,0.00439289],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7243075,"threshold_uncertainty_score":0.9044706,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392593692","doi":"10.1016/j.gimo.2024.101329","title":"P435: CEP78-associated cone-rod dystrophy and hearing loss unveiled through retinal dystrophy panel: Resolving uncertainty in a family with inconclusive WES","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Connective Tissue Growth Factor Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Dystrophy; Macular dystrophy; Audiology; Cone (formal languages); Medicine; Retinal; Ophthalmology; Optometry; Computer science; Pathology; Algorithm","authors":[{"name":"Yi Zhai","is_ca":true},{"name":"Brian G. Ballios","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05026972001449759,"gpt":0.3504239553929681,"spread":0.3001542353784705,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008360099,0.0003179815,0.0004999301,0.0001823826,0.0001075455,0.0001247905,0.0005646736,0.0002041639,0.00004109127],"category_scores_gemma":[0.0004566467,0.0002662393,0.00003254379,0.0005718704,0.0004939987,0.00001738848,0.001040717,0.0005300395,0.000004169943],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001842567,"about_ca_system_score_gemma":0.0003121543,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003209135,"about_ca_topic_score_gemma":0.002750973,"domain_scores_codex":[0.9973646,0.0003102808,0.000451255,0.0008908431,0.0004042458,0.0005787928],"domain_scores_gemma":[0.9990249,0.0001589637,0.00008615008,0.0004261234,0.0001719517,0.00013192],"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":[0.002250677,0.0002174821,0.1692052,0.0004967705,0.0004959028,0.002530323,0.00819727,0.001097628,0.8060228,0.0008729291,0.001227777,0.007385207],"study_design_scores_gemma":[0.03259043,0.01810126,0.7921654,0.01007883,0.0003530916,0.00058151,0.02262445,0.008869703,0.05631784,0.008033081,0.0465412,0.003743227],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9897025,0.005910372,0.0002712276,0.001094095,0.000127992,0.000970649,0.00003103711,0.00001757856,0.001874531],"genre_scores_gemma":[0.997375,0.00104922,0.0006821187,0.0001924576,0.0002036772,0.00009121713,0.0001018884,0.00006050619,0.0002439208],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.749705,"threshold_uncertainty_score":0.999979,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408532293","doi":"10.1016/j.gimo.2025.102033","title":"O08: Assessing the pathogenicity of BRCA1 BRCT domain variants of uncertain significance (VUS)","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Viral Infections and Immunology Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University Health Network; Queen's University","funders":"","keywords":"Pathogenicity; Domain (mathematical analysis); Computational biology; Genetics; Biology; Mathematics; Microbiology","authors":[{"name":"Gabriella Torretto","is_ca":true},{"name":"Matthew Martin","is_ca":true},{"name":"Scott Davey","is_ca":true},{"name":"Harriet Feilotter","is_ca":true},{"name":"Nicole Archer","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.06953357791575734,"gpt":0.444055546450052,"spread":0.3745219685342946,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002150728,0.0001157676,0.0005111958,0.0002052072,0.0000856425,0.00001324479,0.0005274721,0.0001054868,0.0002180369],"category_scores_gemma":[0.0006149571,0.00007425004,0.0000464823,0.0008761798,0.0006717709,0.00004348817,0.0003299825,0.0003817291,0.000002521083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006579855,"about_ca_system_score_gemma":0.0004544956,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001590211,"about_ca_topic_score_gemma":0.0001274762,"domain_scores_codex":[0.9983934,0.0003140976,0.0005720462,0.0002394013,0.0002470144,0.0002340604],"domain_scores_gemma":[0.9986606,0.000305578,0.000148982,0.0006300604,0.0002176009,0.00003713131],"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":[0.0003814159,0.0006144617,0.2579378,0.0004112628,0.0003650723,0.00004946383,0.001435694,0.0001833996,0.6387025,0.005455081,0.003343087,0.09112078],"study_design_scores_gemma":[0.004762483,0.001085361,0.9523618,0.001565113,0.0001469727,0.00002443693,0.00370063,0.001393117,0.02107478,0.00781019,0.005941296,0.0001338302],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9462111,0.003324835,0.003642726,0.005683769,0.0002654878,0.001234922,0.000007650231,0.000006597119,0.0396229],"genre_scores_gemma":[0.9954581,0.0008555648,0.002138602,0.0003984339,0.00004573558,0.00003982164,0.000007921702,0.000009883913,0.001045965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.694424,"threshold_uncertainty_score":0.3027829,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392592405","doi":"10.1016/j.gimo.2024.101780","title":"P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Ottawa; McMaster University; London Health Sciences Centre; Queen's University; Children's Hospital of Eastern Ontario; Ted Rogers Centre for Heart Research; University Health Network; SickKids Foundation; University of Toronto; Kingston Health Sciences Centre; Hospital for Sick Children","funders":"","keywords":"Cohort; Genome; Genetics; Medicine; Biology; Gene; Internal medicine","authors":[{"name":"Katharine Fooks","is_ca":true},{"name":"Lydia Vermeer","is_ca":true},{"name":"Elise Poole","is_ca":true},{"name":"Stephanie Luca","is_ca":true},{"name":"Riyana Babul‐Hirji","is_ca":true},{"name":"Lauren Chad","is_ca":true},{"name":"David Chitayat","is_ca":true},{"name":"Michael P. Mackley","is_ca":true},{"name":"M. Schwartz","is_ca":true},{"name":"Wendy J. Ungar","is_ca":true},{"name":"Robin Z. Hayeems","is_ca":true},{"name":"Secondary Findings Study Team","is_ca":false},{"name":"Joyce Yan","is_ca":true},{"name":"Abigail Hansen","is_ca":true},{"name":"Viji Venkataramanan","is_ca":true},{"name":"Daniel Assamad","is_ca":true},{"name":"Christian R. Marshall","is_ca":true},{"name":"Meredith Gillespie","is_ca":true},{"name":"Anna Szuto","is_ca":true},{"name":"Caitlin Chisholm","is_ca":true},{"name":"James Stavropoulos","is_ca":true},{"name":"Lijia Huang","is_ca":true},{"name":"Olga Jarinova","is_ca":true},{"name":"Lynette Lau","is_ca":true},{"name":"Whiwon Lee","is_ca":true},{"name":"Lauren Badalato","is_ca":true},{"name":"Tuğçe B. Balcı","is_ca":true},{"name":"Cara Inglese","is_ca":true},{"name":"Virginie Beauséjour Ladouceur","is_ca":true},{"name":"Chantal F. Morel","is_ca":true},{"name":"Julie Richer","is_ca":true},{"name":"Mark A. Tarnopolsky","is_ca":true},{"name":"Anita Villani","is_ca":true},{"name":"Laura Zahavich","is_ca":true},{"name":"Olivia Moran","is_ca":true},{"name":"Sarah L. Sawyer","is_ca":true},{"name":"Roberto Mendoza‐Londono","is_ca":true},{"name":"Martin J. Somerville","is_ca":true},{"name":"Kym M. Boycott","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02453489036485536,"gpt":0.2938862868373021,"spread":0.2693513964724468,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004599811,0.0001126884,0.0002173415,0.0001111803,0.00002320355,0.00001684702,0.0002768362,0.00004374703,0.00001820877],"category_scores_gemma":[0.000152712,0.00007707412,0.00003712532,0.0001582957,0.0001228098,0.000006249371,0.0003271868,0.00009758736,2.547702e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003726791,"about_ca_system_score_gemma":0.0001716699,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000628774,"about_ca_topic_score_gemma":0.0001651616,"domain_scores_codex":[0.9991474,0.00004417167,0.0003254161,0.0002351059,0.00009616244,0.0001517714],"domain_scores_gemma":[0.9996081,0.00005216367,0.00005024607,0.0002048221,0.00004464137,0.00004001237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005201559,0.000025418,0.909386,0.0001376516,0.00008052896,0.000009615937,0.002266285,0.0006361488,0.0816176,0.000009085571,0.0001846948,0.00559493],"study_design_scores_gemma":[0.0004555873,0.0002984211,0.9908395,0.0002186933,0.00001960262,0.000002757994,0.001109107,0.0001336618,0.006317579,0.0001703381,0.0003374788,0.00009728378],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938035,0.004821441,0.00001226726,0.00004090326,0.00008914985,0.0003494354,0.0000311372,0.000001365049,0.0008507965],"genre_scores_gemma":[0.9953002,0.004366529,0.0001278775,0.00003972992,0.00003762559,0.00002653791,0.00005703502,0.00001584356,0.00002866673],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08145346,"threshold_uncertainty_score":0.3142991,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4406122225","doi":"10.1016/j.gimo.2024.101959","title":"Association of HFE genotypes with hemochromatosis-related phenotypes in the All of Us research program","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Western University","funders":"Oak Ridge Institute for Science and Education; Centers for Disease Control and Prevention; National Institutes of Health; Protagonist Therapeutics; U.S. Department of Energy","keywords":"Hemochromatosis; Phenotype; Genotype; Hereditary hemochromatosis; Association (psychology); Genetics; Medicine; Biology; Psychology; Gene","authors":[{"name":"Nandana D. Rao","is_ca":false},{"name":"Ramal Moonesinghe","is_ca":false},{"name":"Paul C. Adams","is_ca":true},{"name":"Gail P. Jarvik","is_ca":false},{"name":"Kris V. Kowdley","is_ca":false},{"name":"Laura A. Schieve","is_ca":false},{"name":"Scott D. Grosse","is_ca":false},{"name":"W. David Dotson","is_ca":false},{"name":"Muin J. Khoury","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04199896185832303,"gpt":0.4094310738989916,"spread":0.3674321120406686,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00294715,0.0001002603,0.0004402381,0.0003165508,0.00002733661,0.000009358849,0.0004411434,0.000112843,0.00007957946],"category_scores_gemma":[0.0005794425,0.00006099831,0.00002040835,0.001223503,0.0002280366,0.00002623075,0.0001151005,0.0003197986,0.000002520138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005078488,"about_ca_system_score_gemma":0.000244146,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001586051,"about_ca_topic_score_gemma":0.001242017,"domain_scores_codex":[0.9981082,0.000310003,0.0004829502,0.0001982112,0.00064254,0.0002581123],"domain_scores_gemma":[0.9989178,0.0002880571,0.0001350386,0.0003797153,0.0002483923,0.00003103632],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009142238,0.001470923,0.9169627,0.00091742,0.0001874303,0.00002417032,0.01098578,0.0001921478,0.006319143,0.004183775,0.01289104,0.04495128],"study_design_scores_gemma":[0.008496853,0.001272382,0.9649857,0.000921642,0.0002600517,0.000003308213,0.004812058,0.0002013092,0.003184749,0.003040493,0.01271424,0.0001072515],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9420269,0.003827108,0.00001057697,0.006360497,0.00007493892,0.001924807,0.000002104563,0.000006622402,0.04576644],"genre_scores_gemma":[0.99537,0.000949269,0.002038847,0.0004538725,0.00002525728,0.00008186273,0.0000251232,0.00001161916,0.001044126],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05334312,"threshold_uncertainty_score":0.2487439,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4411358117","doi":"10.1016/j.gimo.2025.103427","title":"Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"NOSM University","funders":"Medical Research Council; Manchester Biomedical Research Centre; NIHR Oxford Biomedical Research Centre; University of Oxford; National Institute of Child Health and Human Development; National Institute for Health and Care Research; Department of Health and Social Care; National Institutes of Health; Cancer Research UK; Wellcome Trust; University of Maryland","keywords":"Retinoic acid; Identification (biology); Biochemistry; Chemistry; Biology; Gene","authors":[{"name":"Akiko Hashimoto","is_ca":false},{"name":"Jianshi Yu","is_ca":false},{"name":"Christina Williams","is_ca":false},{"name":"Karin Gaudenz","is_ca":false},{"name":"Parisa Varshosaz","is_ca":true},{"name":"Ruonan Zhao","is_ca":false},{"name":"Nageswara Pilli","is_ca":false},{"name":"Tian Liu","is_ca":false},{"name":"Jonathon Russell","is_ca":false},{"name":"Rebecca S Tooze","is_ca":false},{"name":"Stephen R.F. Twigg","is_ca":false},{"name":"Siddharth Banka","is_ca":false},{"name":"Elizabeth Sweeney","is_ca":false},{"name":"Simon J. McGowan","is_ca":false},{"name":"Samantha J L Knight","is_ca":false},{"name":"Jenny C Taylor","is_ca":false},{"name":"Tawfiq Froukh","is_ca":false},{"name":"Irene Valenzuela","is_ca":false},{"name":"Núria Martínez‐Gil","is_ca":false},{"name":"Mar Costa‐Roger","is_ca":false},{"name":"Teresa Villarreal‐Molina","is_ca":false},{"name":"Rami Abou Jamra","is_ca":false},{"name":"Felix Gattermann","is_ca":false},{"name":"Margarete Koch‐Hogrebe","is_ca":false},{"name":"Dagmar Wieczorek","is_ca":false},{"name":"Paul A. Trainor","is_ca":false},{"name":"Alexander R. Moise","is_ca":true},{"name":"Andrew O.M. Wilkie","is_ca":false},{"name":"Maureen A. Kane","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0130749666535661,"gpt":0.2994718673457215,"spread":0.2863969006921554,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000647256,0.0001301537,0.0002755361,0.0001249438,0.00003690121,0.00001114212,0.0004001944,0.0001002298,0.00001724807],"category_scores_gemma":[0.0001367575,0.0001250612,0.00002591187,0.0002726271,0.000248344,0.000004072019,0.000236117,0.0000533721,4.329498e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002968827,"about_ca_system_score_gemma":0.0001035214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004253482,"about_ca_topic_score_gemma":0.00006138494,"domain_scores_codex":[0.9987036,0.00009712199,0.0005590554,0.0003495089,0.0001416461,0.0001490526],"domain_scores_gemma":[0.9992239,0.000008663012,0.000154416,0.0004606195,0.0001103983,0.00004196333],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004932031,0.000070983,0.008772821,0.00009774906,0.00001380345,5.021117e-7,0.00025937,0.000021505,0.9835197,0.0003377555,0.0001686434,0.006687805],"study_design_scores_gemma":[0.0008032277,0.0001728404,0.07774623,0.00009969286,0.00005606409,0.000001882547,0.0004498605,0.0001681237,0.9185388,0.0005829514,0.001258831,0.0001214728],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9900136,0.005312543,0.002528288,0.0001724707,0.0001780956,0.0005261633,0.00002943119,0.000002069229,0.001237351],"genre_scores_gemma":[0.9957152,0.00308236,0.0004256533,0.0001232506,0.00003877017,0.00003208032,0.0002435655,0.0000111407,0.0003279795],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06897341,"threshold_uncertainty_score":0.5099849,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408532141","doi":"10.1016/j.gimo.2025.102111","title":"O35: A genotype-first approach among adults at risk for treatable monogenic disorders reveals underdiagnosis and incomplete penetrance","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"","funders":"","keywords":"Penetrance; Genotype; Medicine; Genetics; Pediatrics; Biology; Phenotype; Gene","authors":[{"name":"Nina B. Gold","is_ca":false},{"name":"Julie Yeo","is_ca":false},{"name":"Emma Perez","is_ca":false},{"name":"Hana Zouk","is_ca":false},{"name":"Margaret Sunitha Selvaraj","is_ca":false},{"name":"Satoshi Koyama","is_ca":false},{"name":"Pradeep Natarajan","is_ca":false},{"name":"Robert C. Green","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01130077875211726,"gpt":0.2737596935853441,"spread":0.2624589148332268,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000317933,0.0002199389,0.0003284013,0.0000835155,0.0002215488,0.00003284946,0.000487143,0.0001357769,0.00001165745],"category_scores_gemma":[0.0001378086,0.0001979752,0.00005986289,0.0001562596,0.0001896184,0.000004286529,0.0005296066,0.00007440682,9.250444e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003763205,"about_ca_system_score_gemma":0.00006267567,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007380396,"about_ca_topic_score_gemma":0.005195003,"domain_scores_codex":[0.9985765,0.00006101861,0.0003257687,0.0006317057,0.00008821073,0.0003168288],"domain_scores_gemma":[0.9991754,0.00006687473,0.0001118317,0.0004825546,0.00005449314,0.000108883],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001093228,0.0002934253,0.9559166,0.0005110896,0.0003195853,0.0000038786,0.0005075983,0.002126176,0.006221619,0.0002009006,0.01562256,0.01718338],"study_design_scores_gemma":[0.01116943,0.0009669674,0.9073609,0.0003582821,0.0003464426,0.00000717704,0.0008553649,0.003475255,0.002434642,0.004261537,0.0680252,0.000738871],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.977217,0.01599959,0.001776166,0.0003514952,0.000117472,0.001659901,0.0001168532,0.000005247786,0.002756255],"genre_scores_gemma":[0.976816,0.01767153,0.003133705,0.0003068588,0.00009451864,0.0004176401,0.0003278149,0.00002960891,0.001202305],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05240265,"threshold_uncertainty_score":0.8073194,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4415766754","doi":"10.1016/j.gimo.2025.103469","title":"Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetics, Aging, and Longevity in Model Organisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false},"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Office of Research Infrastructure Programs, National Institutes of Health; Canadian Institutes of Health Research","keywords":"Functional analysis; Caenorhabditis elegans; Phenotype; Mutation; Strain (injury); Correlation","authors":[{"name":"Ivette M. Menéndez‐Perdomo","is_ca":true},{"name":"Maja Tarailo‐Graovac","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.04750663458945919,"gpt":0.3357843673869441,"spread":0.2882777327974849,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005460524,0.0001740427,0.0005244128,0.0003133258,0.00004669697,0.00001015276,0.0005971643,0.0001512321,0.00007766022],"category_scores_gemma":[0.0001244274,0.0001739767,0.00008209058,0.0007392102,0.0002479813,0.000003925844,0.0002977295,0.000102492,3.691478e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003233807,"about_ca_system_score_gemma":0.0003609876,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001100732,"about_ca_topic_score_gemma":0.0009130827,"domain_scores_codex":[0.9984273,0.00008907793,0.0005898552,0.0004234368,0.0002437575,0.0002265362],"domain_scores_gemma":[0.99887,0.00003082419,0.0002107588,0.0005987131,0.0002334979,0.00005619331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0000678802,0.00009867021,0.02248367,0.00005453228,0.0004821739,0.000001785413,0.0003474958,0.4789581,0.4956592,0.0003731645,0.000868835,0.0006044555],"study_design_scores_gemma":[0.003479867,0.0005945635,0.1434862,0.0002601163,0.002390948,0.000004645828,0.0009594126,0.574631,0.2684754,0.0039794,0.001114455,0.0006240026],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7965893,0.001131552,0.199573,0.0002099861,0.0001977879,0.0003447572,0.00006552134,0.000002616012,0.001885551],"genre_scores_gemma":[0.9860778,0.0004705969,0.01213338,0.00030851,0.00006307915,0.00001194909,0.0001387481,0.00001578874,0.0007801587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2271838,"threshold_uncertainty_score":0.7094564,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408531152","doi":"10.1016/j.gimo.2025.103374","title":"P507: Tetrasomy 9p in a patient affected with dilated cardiomyopathy: Incidental finding or extended phenotype?","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Cardiac tumors and thrombi","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; McGill University Health Centre","funders":"","keywords":"Dilated cardiomyopathy; Phenotype; Tetrasomy; Medicine; Genetics; Internal medicine; Biology; Cytogenetics; Chromosome; Heart failure; Gene","authors":[{"name":"Tania Cruz Mariño","is_ca":true},{"name":"Josianne Leblanc","is_ca":true},{"name":"Jessica Tardif","is_ca":true},{"name":"Marie‐Jacqueline Thomas","is_ca":true},{"name":"Annabelle Pratte","is_ca":true},{"name":"Jonathan Beaudoin","is_ca":true},{"name":"Melinda Barabas","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0188432952579481,"gpt":0.3259036790755055,"spread":0.3070603838175575,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005121419,0.0002709303,0.0009180042,0.000502206,0.00005843929,0.00003400971,0.0002770046,0.0001140282,0.0002150944],"category_scores_gemma":[0.0003098651,0.0001893361,0.00005144031,0.001464623,0.0001511584,0.00005592878,0.0003383494,0.000418781,0.000008782937],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000301979,"about_ca_system_score_gemma":0.0004010682,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001093693,"about_ca_topic_score_gemma":0.001374268,"domain_scores_codex":[0.997975,0.0001266277,0.0005412167,0.0005057294,0.000435237,0.0004161905],"domain_scores_gemma":[0.9990083,0.000125474,0.0001027219,0.0005279643,0.00009702442,0.0001385252],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004692663,0.001105848,0.8778575,0.0005385411,0.0005072239,0.008453299,0.007537062,0.0003825018,0.01922732,0.0004447766,0.006572447,0.07268079],"study_design_scores_gemma":[0.01282529,0.001708967,0.9731277,0.00286841,0.0002509207,0.0002081966,0.002847198,0.0003506324,0.002767881,0.0002570577,0.002479716,0.0003080037],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.971588,0.001050914,0.0001020502,0.0005837097,0.0004234594,0.002089863,0.000007298456,0.00003028365,0.02412446],"genre_scores_gemma":[0.9969961,0.0001707799,0.001243874,0.0006484489,0.0001034878,0.0001252624,0.00006531466,0.00003610711,0.00061063],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0952702,"threshold_uncertainty_score":0.7720902,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4414421445","doi":"10.1016/j.gimo.2025.103458","title":"Real-life implementation of prenatal cell-free DNA screening with in vitro fetal enrichment virtually eliminates the need for redraws and improves performance: A cohort study","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true},"ca_institutions":"University of British Columbia; Université Laval; Centre Hospitalier Universitaire Sainte-Justine; Hôpital Saint-François d'Assise; Centre hospitalier de l'Université Laval","funders":"Fonds de Recherche du Québec - Santé; Genome Alberta; Fondation de l’Université Laval; Génome Québec; Ontario Research Foundation; Ministère de l'Enseignement Supérieur, de la Recherche, de la Science et de la Technologie; Illumina; Canadian Institutes of Health Research; Genome Canada; Genome British Columbia; Université Laval","keywords":"Prenatal screening; Fetus; Cohort study; Cell-free fetal DNA; Pregnancy; Cohort; Prenatal diagnosis","authors":[{"name":"Sylvie Giroux","is_ca":true},{"name":"Seyedeh Saideh Daryabari","is_ca":true},{"name":"André Caron","is_ca":true},{"name":"Julie Jeukens","is_ca":true},{"name":"Yves Giguère","is_ca":true},{"name":"Jean‐Claude Forest","is_ca":true},{"name":"François Audibert","is_ca":true},{"name":"Emmanuel Bujold","is_ca":true},{"name":"Sylvie Langlois","is_ca":true},{"name":"François Rousseau","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01611393711976179,"gpt":0.3248887152793341,"spread":0.3087747781595723,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001244065,0.0001769378,0.0004617357,0.0001899226,0.00009792301,0.0000238788,0.0003731169,0.00005335403,0.0000064038],"category_scores_gemma":[0.0002689591,0.0001141922,0.00001795716,0.0003237367,0.0001451777,0.00006283747,0.0004429586,0.0001769717,9.350929e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004650921,"about_ca_system_score_gemma":0.0001702432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002911453,"about_ca_topic_score_gemma":0.0006931307,"domain_scores_codex":[0.9984748,0.00006692687,0.0005519939,0.000319014,0.0003393391,0.0002479356],"domain_scores_gemma":[0.9988701,0.0003523335,0.0001624936,0.0004307838,0.0001062059,0.00007802161],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00216026,0.0002910065,0.9475813,0.000321102,0.0001344735,0.0000122857,0.002948753,0.00006266432,0.01337283,0.00007398502,0.0003893112,0.03265206],"study_design_scores_gemma":[0.01626216,0.004320866,0.9224933,0.0005343289,0.0003279664,0.000004172965,0.02105436,0.002478028,0.03231256,0.00005996076,0.00002638308,0.0001259289],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924593,0.0004606201,0.0005696681,0.0009661732,0.00004670794,0.00434563,0.00001897368,0.000009068752,0.001123863],"genre_scores_gemma":[0.9939438,0.000272461,0.004902002,0.000200194,0.00004612187,0.0004079642,0.00009694341,0.0000160374,0.0001144439],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03252613,"threshold_uncertainty_score":0.4656622,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408502391","doi":"10.1016/j.gimo.2025.102956","title":"P112: Phenotype prediction using cell-free DNA fragmentation as a predictor of clinical severity in neurofibromatosis type 1 (NF1)","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":1,"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; University Health Network; Hospital for Sick Children; Princess Margaret Cancer Centre","funders":"","keywords":"Neurofibromatosis; Fragmentation (computing); Phenotype; DNA; Genetics; Biology; Computational biology; Internal medicine; Medicine; Gene","authors":[{"name":"Maha M. Tageldein","is_ca":true},{"name":"Derek Wong","is_ca":true},{"name":"Julia A. Sobotka","is_ca":true},{"name":"Carolina Barnett‐Tapia","is_ca":true},{"name":"Hamid Sadeghian","is_ca":true},{"name":"Emily Thain","is_ca":true},{"name":"Katharine Cardiff","is_ca":true},{"name":"Raymond H. Kim","is_ca":true},{"name":"Trevor J. Pugh","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.07576287595504652,"gpt":0.4004013685472581,"spread":0.3246384925922116,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009905803,0.0002159827,0.000854571,0.0003643443,0.00004620586,0.00002012362,0.0004560055,0.0001968376,0.0001707689],"category_scores_gemma":[0.001080837,0.0001959478,0.00006815536,0.0009656938,0.0001808985,0.0001061278,0.0004375664,0.0003561563,0.000005710479],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007387499,"about_ca_system_score_gemma":0.0004801344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006256304,"about_ca_topic_score_gemma":0.00006217342,"domain_scores_codex":[0.9970056,0.0002964401,0.001452769,0.000519311,0.0004596842,0.0002661677],"domain_scores_gemma":[0.9983709,0.0002742187,0.0002876517,0.0007668264,0.0001649305,0.0001354599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001661877,0.0006937082,0.924782,0.0005573498,0.0000539725,0.0001231072,0.0004166419,0.0001536599,0.06328844,0.0001691961,0.005848081,0.0022519],"study_design_scores_gemma":[0.01057949,0.001879007,0.9620773,0.001719005,0.0002498729,0.00003646179,0.0005554505,0.004871628,0.01554159,0.001359518,0.0009609192,0.0001697604],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864048,0.0006000384,0.0000646616,0.0007874093,0.001001104,0.001241971,0.00002275544,0.0000231932,0.009854044],"genre_scores_gemma":[0.9948016,0.0004823345,0.00344829,0.0007530214,0.0001642008,0.00002185093,0.00004923741,0.00002915372,0.0002503167],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04774685,"threshold_uncertainty_score":0.799052,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392606737","doi":"10.1016/j.gimo.2024.101419","title":"P520: The Translational Genomics Hub (TGH): A new precision medicine tool at the University of Alberta","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Biomedical and Engineering Education","field":"Engineering","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"Hospital for Sick Children; Women and Children’s Health Research Institute; University of Alberta","funders":"","keywords":"Genomics; Translational medicine; Computational biology; Precision medicine; Translational research; Biology; Computer science; Genetics; Biotechnology; Genome; Gene","authors":[{"name":"Oana Caluseriu","is_ca":true},{"name":"Farah Hassan","is_ca":true},{"name":"Jamil Kassam","is_ca":true},{"name":"Chisom Ezeh","is_ca":true},{"name":"Anjali Jain","is_ca":true},{"name":"Tanya Voth","is_ca":true},{"name":"Roger P. Alexander","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0203072761493685,"gpt":0.2529620418216439,"spread":0.2326547656722754,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004373111,0.00009634582,0.0001456298,0.0000562089,0.00004659608,0.000009087252,0.0005075329,0.00006439634,0.001376163],"category_scores_gemma":[0.00004611207,0.00005534144,0.00002112227,0.0003155266,0.0001605889,0.00003317015,0.00008561663,0.0001767386,0.0000274221],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006912732,"about_ca_system_score_gemma":0.0000682074,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008256981,"about_ca_topic_score_gemma":0.0008512408,"domain_scores_codex":[0.9993091,0.00002204483,0.000206238,0.0001326092,0.0002066556,0.0001233384],"domain_scores_gemma":[0.9993304,0.0003379449,0.00001501003,0.0002471828,0.00001549186,0.00005397063],"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":[0.00005879564,0.00002769392,0.0004502379,0.0004791955,0.0001589936,0.000009274727,0.03679001,0.0612612,0.01010607,0.002849374,0.6056073,0.2822019],"study_design_scores_gemma":[0.0006816969,0.00007648137,0.01159659,0.0005133554,0.00007118344,0.00001357414,0.0005486425,0.1011127,0.0002442376,0.003089009,0.8819228,0.0001296813],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5853888,0.0690373,0.0758274,0.1903502,0.008826502,0.002923404,0.00003722459,0.0001958546,0.06741327],"genre_scores_gemma":[0.9760647,0.006335787,0.002297056,0.0003131253,0.001045878,0.000007232336,0.0001028965,0.00005470391,0.01377861],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3906759,"threshold_uncertainty_score":0.9995367,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4324117491","doi":"10.1016/j.gimo.2023.100634","title":"P587: Leveraging extensive datasets to better classify SMARCA4 variants*","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University Health Centre; McGill University","funders":"","keywords":"SMARCA4; Computer science; Computational biology; Data science; Biology; Genetics; Gene","authors":[{"name":"Leora Witkowski","is_ca":true},{"name":"Nadine Demko","is_ca":true},{"name":"Elodie Petrecca","is_ca":true},{"name":"Marie Loncol","is_ca":true},{"name":"William D. Foulkes","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0576557045035023,"gpt":0.3654791469859009,"spread":0.3078234424823986,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005645989,0.0001653162,0.000230947,0.000101414,0.00006785543,0.00003479325,0.0006649502,0.0001029359,0.0001045671],"category_scores_gemma":[0.0001933785,0.0001494411,0.00002528394,0.0003089583,0.00005960675,0.000003239666,0.0008183574,0.000129476,0.00009559262],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002566624,"about_ca_system_score_gemma":0.00008896425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001716315,"about_ca_topic_score_gemma":0.0001155835,"domain_scores_codex":[0.9985586,0.00006683086,0.000296567,0.0005195411,0.0002101547,0.0003482451],"domain_scores_gemma":[0.9990709,0.00002352739,0.00005262015,0.0006587206,0.0000644263,0.0001297696],"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":[0.00008364436,0.00003149126,0.003508961,0.0000390167,0.00005333097,0.00007750703,0.0005570139,0.002487624,0.4643969,0.00002427327,0.4892993,0.03944097],"study_design_scores_gemma":[0.006128131,0.001103255,0.08862223,0.0007691621,0.00009252583,0.00008267256,0.001887175,0.009234049,0.07360618,0.002047902,0.8151412,0.001285527],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859877,0.0005928712,0.002229469,0.006171507,0.0006318521,0.0005914791,0.00009600096,0.00002157641,0.003677598],"genre_scores_gemma":[0.9735871,0.0009126394,0.00672471,0.0136838,0.001123806,0.0001055289,0.001745368,0.00007054595,0.002046529],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3907907,"threshold_uncertainty_score":0.6094033,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392606936","doi":"10.1016/j.gimo.2024.101454","title":"P555: Clinical utility returning of all types of medically relevant genomic sequencing findings: An observational study","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto; Hospital for Sick Children; Sunnybrook Health Science Centre; Health Sciences Centre; University Health Network","funders":"","keywords":"Observational study; Genomic sequencing; Computational biology; Medicine; Biology; Genetics; Internal medicine; Genome; Gene","authors":[{"name":"Chloe Mighton","is_ca":false},{"name":"Rita Kodida","is_ca":false},{"name":"Salma Shickh","is_ca":false},{"name":"Marc Clausen","is_ca":false},{"name":"Emma Reble","is_ca":false},{"name":"Jordan Sam","is_ca":false},{"name":"Sonya Grewal","is_ca":false},{"name":"Seema Panchal","is_ca":false},{"name":"Melyssa Aronson","is_ca":false},{"name":"Susan Randall Armel","is_ca":true},{"name":"Tracy Graham","is_ca":true},{"name":"Nicole Forster","is_ca":true},{"name":"José‐Mario Capo‐Chichi","is_ca":true},{"name":"Elena Greenfeld","is_ca":false},{"name":"Abdul Noor","is_ca":false},{"name":"Iris Cohn","is_ca":true},{"name":"Chantal F. Morel","is_ca":true},{"name":"Christine Elser","is_ca":false},{"name":"Andrea Eisen","is_ca":true},{"name":"June Carroll","is_ca":false},{"name":"Emily Glogowski","is_ca":false},{"name":"Kasmintan A. Schrader","is_ca":false},{"name":"Kelvin Chan","is_ca":true},{"name":"Kevin E. Thorpe","is_ca":true},{"name":"Jordan Lerner‐Ellis","is_ca":false},{"name":"Raymond H. Kim","is_ca":true},{"name":"Yvonne Bombard","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.2221101445286654,"gpt":0.449978624913526,"spread":0.2278684803848605,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002152523,0.0001308431,0.000350564,0.00006624276,0.00002493446,0.00001524923,0.0005917932,0.0001239119,0.00008220799],"category_scores_gemma":[0.0005272414,0.0001075758,0.00005838434,0.0001174593,0.0001903356,0.000005149906,0.0003875928,0.0001614914,0.000001331225],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002091728,"about_ca_system_score_gemma":0.0005185812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001557571,"about_ca_topic_score_gemma":0.0002141206,"domain_scores_codex":[0.9981501,0.0001792748,0.0008270768,0.0004380178,0.0002388201,0.0001667622],"domain_scores_gemma":[0.9991436,0.00008753553,0.0001160502,0.0004236357,0.0001211358,0.0001080162],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004746277,0.0006854447,0.5193228,0.0003236033,0.000523042,0.0001158342,0.002987218,0.0005452058,0.4587397,0.0003181691,0.002654846,0.01330954],"study_design_scores_gemma":[0.003220296,0.005775995,0.9486841,0.0006458082,0.0003726498,0.00003264056,0.004799891,0.008431677,0.01058909,0.0023457,0.01458269,0.0005194704],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954835,0.002871424,0.0001452898,0.0001995777,0.0003174849,0.0004514013,0.00003109889,0.000004028925,0.0004961508],"genre_scores_gemma":[0.996449,0.0007477878,0.002114255,0.0001898655,0.000230544,0.00001188741,0.0001636758,0.00002050169,0.00007246418],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4481506,"threshold_uncertainty_score":0.4386812,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392606886","doi":"10.1016/j.gimo.2024.101467","title":"P568: Evaluating family-centered care in pediatric orthopedics at BC Children’s Hospital: Parents’/caregivers’ perspectives","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Child and Adolescent Health","field":"Health Professions","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Medicine; Orthopedic surgery; Family medicine; Psychology; Psychiatry","authors":[{"name":"Courtney B. Cook","is_ca":true},{"name":"Harpreet Chhina","is_ca":true},{"name":"Anthony Cooper","is_ca":true},{"name":"Ye Shen","is_ca":true},{"name":"GenCOUNSEL. Study","is_ca":true},{"name":"Alison M. Elliott","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.07835282048859352,"gpt":0.4548892803922271,"spread":0.3765364599036336,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001437735,0.0003306531,0.0005845029,0.000432752,0.0003924156,0.00002947669,0.0007251836,0.0002343691,0.0004903589],"category_scores_gemma":[0.0003333831,0.0002812231,0.00006332915,0.0007106494,0.0001045368,0.0001093007,0.001048813,0.001312327,0.0001863368],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001224315,"about_ca_system_score_gemma":0.00089719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001758287,"about_ca_topic_score_gemma":0.003573797,"domain_scores_codex":[0.9959778,0.0006916234,0.0009678241,0.0008786017,0.0006490144,0.0008351583],"domain_scores_gemma":[0.9985494,0.0003038476,0.0001964918,0.000533656,0.0001567132,0.0002598908],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005918718,0.00008605543,0.8347284,0.0005679487,0.00001403579,0.00004162703,0.1461688,0.00002721013,0.000009690752,0.000107951,0.01136256,0.006826545],"study_design_scores_gemma":[0.004179786,0.0005346606,0.8489835,0.002941625,0.0000720997,0.000001959477,0.1391686,0.0003352238,0.000001446809,0.000149474,0.003312322,0.0003192807],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9493389,0.03495589,0.00001473173,0.003554028,0.002298596,0.003327976,0.00005304793,0.00007284439,0.006384044],"genre_scores_gemma":[0.9763213,0.01948784,0.0003180954,0.0007643288,0.001948,0.00005312495,0.0001843039,0.00007376073,0.000849204],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02698249,"threshold_uncertainty_score":0.999964,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392606689","doi":"10.1016/j.gimo.2024.101469","title":"O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto; SickKids Foundation; University Health Network; Ted Rogers Centre for Heart Research; Hospital for Sick Children","funders":"","keywords":"Haploinsufficiency; Phenotype; Heart defect; Genetics; Medicine; Biology; Cardiology; Heart disease; Gene","authors":[{"name":"Cherith Somerville","is_ca":true},{"name":"Ersa Erkut","is_ca":true},{"name":"M. Schwartz","is_ca":true},{"name":"Xin Chen","is_ca":true},{"name":"Roozbeh Manshaei","is_ca":true},{"name":"Qiliang Ding","is_ca":true},{"name":"Karin E. M. Diderich","is_ca":false},{"name":"Lisa Herzig","is_ca":false},{"name":"Bri Dingmann","is_ca":false},{"name":"Chloé Quēlin","is_ca":false},{"name":"Véronique Pingault","is_ca":false},{"name":"Christèle Dubourg","is_ca":false},{"name":"Joana Rosmaninho Salgado","is_ca":false},{"name":"Sérgio B. Sousa","is_ca":false},{"name":"Daniel C. Koboldt","is_ca":false},{"name":"Rachel Gosselin","is_ca":false},{"name":"Kim L. McBride","is_ca":false},{"name":"Maria Arvio","is_ca":false},{"name":"Irma Järvelä","is_ca":false},{"name":"Isabelle Schrauwen","is_ca":false},{"name":"Laura K. Conlin","is_ca":false},{"name":"Cara Skraban","is_ca":false},{"name":"Sara Reichert","is_ca":false},{"name":"Jacqueline Leonard","is_ca":false},{"name":"Emma Bedoukian","is_ca":false},{"name":"Raymond H. Kim","is_ca":true},{"name":"Ian C. Scott","is_ca":true},{"name":"Rebekah Jobling","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01937048428485228,"gpt":0.2932811795655438,"spread":0.2739106952806915,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004530863,0.0002119237,0.0003123358,0.00007552488,0.00005598028,0.00006346039,0.0002549454,0.0001095512,0.00004059807],"category_scores_gemma":[0.00009240222,0.0001940697,0.00001955412,0.0001827488,0.0003027406,0.00000918977,0.0005553769,0.0001318365,0.000001956401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007829231,"about_ca_system_score_gemma":0.0001789859,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007553061,"about_ca_topic_score_gemma":0.00003345483,"domain_scores_codex":[0.9984626,0.00007687279,0.0004994433,0.0005237009,0.0001703889,0.0002669855],"domain_scores_gemma":[0.9995126,0.00004965144,0.00006320076,0.0002033225,0.00005281198,0.0001184278],"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":[0.0002000624,0.000136044,0.03028307,0.0002336265,0.00008805564,0.00001540218,0.0006084182,0.000007158351,0.9626866,0.0001600729,0.002147989,0.003433501],"study_design_scores_gemma":[0.01028859,0.007656373,0.6398645,0.0007759691,0.0002926633,0.0003296165,0.002098465,0.0007939384,0.06665614,0.001138793,0.268084,0.002020937],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889755,0.007976971,0.0001368345,0.0001967376,0.0002082207,0.00053595,0.00004783044,0.000007546282,0.001914365],"genre_scores_gemma":[0.9910474,0.005619796,0.001907487,0.0007476971,0.0000282357,0.00004152454,0.0001096276,0.0000341543,0.0004640753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8960305,"threshold_uncertainty_score":0.7913933,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392588964","doi":"10.1016/j.gimo.2024.101198","title":"P302: Decoding genetic orchestration: Understanding the cellular and molecular mechanisms of the hematopoietic failure in Fanconi anemia","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Alberta; Alberta Children's Hospital; Royal University Hospital; McGill University Health Centre; Izaak Walton Killam Health Centre; Montreal Children's Hospital; McMaster University; Dalhousie University; Stollery Children's Hospital; Hospital for Sick Children","funders":"","keywords":"Fanconi anemia; Orchestration; Bone marrow failure; Haematopoiesis; Decoding methods; Anemia; Biology; Genetics; Computational biology; Computer science; Medicine; DNA repair; Gene; Stem cell; Internal medicine","authors":[{"name":"Apichat Photia","is_ca":true},{"name":"Mariana Benicio","is_ca":true},{"name":"Hongbing Li","is_ca":true},{"name":"Houtan Moshiri","is_ca":true},{"name":"Richard N. Armstrong","is_ca":true},{"name":"Efe Sahinoglu","is_ca":true},{"name":"Vickey Breakey","is_ca":true},{"name":"Sharon Abhish","is_ca":true},{"name":"Stephanie Villeneuve","is_ca":true},{"name":"Roona Sinha","is_ca":true},{"name":"Catharine Corriveau-Bourque","is_ca":true},{"name":"MacGregor Steele","is_ca":true},{"name":"Yigal Dror","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.02525098341380973,"gpt":0.283344660552033,"spread":0.2580936771382233,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007958695,0.0001897662,0.0002268578,0.00007695353,0.00006383161,0.00006204218,0.000682473,0.0001571202,0.00003036949],"category_scores_gemma":[0.00008762247,0.0001250789,0.00004416013,0.0003417292,0.0002008493,0.000005779068,0.0005128972,0.0002192193,0.00000114581],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005203599,"about_ca_system_score_gemma":0.0001409596,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003971429,"about_ca_topic_score_gemma":0.0003833796,"domain_scores_codex":[0.998498,0.0001695501,0.0004025054,0.0004278811,0.0002533584,0.0002486955],"domain_scores_gemma":[0.9992366,0.00004998904,0.00007790625,0.0005572703,0.00002657919,0.00005162152],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001189536,0.00001728027,0.0005053603,0.000164428,0.00002493222,0.00004522006,0.0007240004,0.0004609061,0.9794089,0.01754015,0.0001757324,0.0009211678],"study_design_scores_gemma":[0.001104226,0.0003305038,0.0005454313,0.0008897791,0.0000837932,0.0001108269,0.00463814,0.003959664,0.9049611,0.08212341,0.0009237172,0.0003294255],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9369535,0.006992444,0.04958264,0.003242323,0.0004021178,0.0007441411,0.000004860865,0.00001043324,0.002067522],"genre_scores_gemma":[0.9950123,0.0003905525,0.004006166,0.000298501,0.00006319931,0.00004307841,0.000008144259,0.00003302966,0.0001450508],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07444785,"threshold_uncertainty_score":0.5100569,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392607084","doi":"10.1016/j.gimo.2024.101047","title":"P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"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":"","keywords":"Gene; Hypertrophic cardiomyopathy; Disease; Genetics; Biology; Medicine; Cardiology; Pathology","authors":[{"name":"Amber Waddell","is_ca":false},{"name":"Sophie Hespe","is_ca":false},{"name":"Babken Asatryan","is_ca":false},{"name":"Emma Owens","is_ca":false},{"name":"Courtney Thaxton","is_ca":false},{"name":"Mhy-Lanie Adduru","is_ca":false},{"name":"Kailyn Anderson","is_ca":false},{"name":"Emily Brown","is_ca":false},{"name":"Lily Hoffman‐Andrews","is_ca":false},{"name":"Elizabeth Jordan","is_ca":false},{"name":"Megan Mayers","is_ca":false},{"name":"Stacey Peters","is_ca":false},{"name":"Fergus Stafford","is_ca":false},{"name":"Richard D. Bagnall","is_ca":false},{"name":"Lucas Bronicki","is_ca":true},{"name":"Bert Callewaert","is_ca":false},{"name":"C. Anwar A. Chahal","is_ca":false},{"name":"Cynthia A. James","is_ca":false},{"name":"Olga Jarinova","is_ca":true},{"name":"Andrew P. Landstrom","is_ca":false},{"name":"Elizabeth M. McNally","is_ca":false},{"name":"Brittney Murray","is_ca":false},{"name":"Laura Muiño Mosquera","is_ca":false},{"name":"Victoria N. Parikh","is_ca":false},{"name":"Chloe M. Reuter","is_ca":false},{"name":"Roddy Walsh","is_ca":false},{"name":"Bess Wayburn","is_ca":false},{"name":"James S. Ware","is_ca":false},{"name":"Jodie Ingles","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.11097523265186,"gpt":0.3513456425206726,"spread":0.2403704098688125,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001698096,0.0002787397,0.001134324,0.0001658892,0.00007696499,0.00001543621,0.0004761922,0.0001170814,0.00002773337],"category_scores_gemma":[0.0004541798,0.0001858937,0.00053174,0.0006273733,0.0004470081,0.00008562533,0.0005543298,0.0002739034,0.00000332747],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000583218,"about_ca_system_score_gemma":0.0003609223,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007243892,"about_ca_topic_score_gemma":0.00001813335,"domain_scores_codex":[0.9970942,0.0003297315,0.0007800173,0.0005505402,0.0009613511,0.0002842148],"domain_scores_gemma":[0.9980087,0.0001490158,0.000108995,0.00132266,0.0002556278,0.0001550151],"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":[0.003246097,0.001261834,0.2765872,0.008662788,0.0132042,0.005546929,0.02355828,0.009469737,0.2908335,0.001232968,0.03226653,0.3341299],"study_design_scores_gemma":[0.01091843,0.001818965,0.5572001,0.008310802,0.01044747,0.001030553,0.00467076,0.004059419,0.08971318,0.001227968,0.3093058,0.001296582],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7856567,0.2061403,0.0005923415,0.001640714,0.002573011,0.001473223,0.00006219441,0.00003220956,0.001829324],"genre_scores_gemma":[0.9792873,0.01784319,0.0006422261,0.0001734157,0.001751817,0.0001108636,0.00004164956,0.0000506619,0.00009890611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3328333,"threshold_uncertainty_score":0.7580527,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392588856","doi":"10.1016/j.gimo.2024.101426","title":"P527: Evidence-based methodology for developing coordinated genetic service recommendations in Ontario","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Food Security and Health in Diverse Populations","field":"Health Professions","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true},"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University Health Network","funders":"","keywords":"Service (business); Process management; Computer science; Business; Marketing","authors":[{"name":"Luis de la Peña","is_ca":false},{"name":"Angela Du","is_ca":false},{"name":"Kaitlyn Lemay","is_ca":false},{"name":"Kathleen Bell","is_ca":false},{"name":"Raymond Kim","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.8062949146991392,"gpt":0.6220602639634424,"spread":0.1842346507356968,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.004067225,0.0001749181,0.0004715232,0.0005489525,0.0003908516,0.00002150693,0.0005960556,0.0002788512,0.001427618],"category_scores_gemma":[0.001160397,0.0001671708,0.00002597186,0.001033818,0.00005350029,0.0001329477,0.0002842788,0.0009039987,0.0000844977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009955727,"about_ca_system_score_gemma":0.003269121,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1737944,"about_ca_topic_score_gemma":0.8421031,"domain_scores_codex":[0.9966086,0.001103912,0.001102749,0.000468104,0.0001537959,0.0005628166],"domain_scores_gemma":[0.9948991,0.004260311,0.0001391136,0.000336385,0.0002557555,0.000109364],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001073529,0.0002713277,0.5620351,0.009276158,0.0001684448,0.0001079842,0.1661569,0.006011607,0.0005138871,0.06828802,0.1283974,0.05769959],"study_design_scores_gemma":[0.004827629,0.0005498371,0.3191795,0.01916824,0.0001169288,0.000004189134,0.007842313,0.02943253,0.00004588646,0.0401002,0.5781725,0.0005602275],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"methods","genre_scores_codex":[0.3464942,0.006998311,0.06708103,0.546975,0.01043112,0.01466482,0.00008659047,0.0001849726,0.007084001],"genre_scores_gemma":[0.3717077,0.001810578,0.5786429,0.04031093,0.0006025643,0.003578283,0.0005305829,0.0001023095,0.002714141],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.6683087,"threshold_uncertainty_score":0.9994852,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4324116746","doi":"10.1016/j.gimo.2023.100427","title":"P391: What are patients’ perspectives on the privacy and security of digital genomic tools? A qualitative study","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Biomedical Ethics and Regulation","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Internet privacy; Qualitative research; Computer science; Computer security; Data science; World Wide Web; Sociology; Social science","authors":[{"name":"Vedika Jha","is_ca":false},{"name":"Saumeh Saeedi","is_ca":false},{"name":"Daniel Assamad","is_ca":true},{"name":"Sonya Grewal","is_ca":false},{"name":"Daena Hirjikaka","is_ca":false},{"name":"Whiwon Lee","is_ca":true},{"name":"Stephanie Luca","is_ca":true},{"name":"Angela Shaw","is_ca":false},{"name":"Robin Z. Hayeems","is_ca":true},{"name":"Marc Clausen","is_ca":false},{"name":"Yvonne Bombard","is_ca":false},{"name":"Genetics Navigator Study Team","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.1160959962023351,"gpt":0.4180801889290661,"spread":0.3019841927267309,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001262962,0.0001185582,0.0003394039,0.0001312966,0.00006059759,0.00006274717,0.0002279662,0.00007849858,0.00004375683],"category_scores_gemma":[0.0007428931,0.00006761269,0.00002288459,0.0004071708,0.0007367815,0.0001030097,0.0003516552,0.0002754733,0.000006037157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004498777,"about_ca_system_score_gemma":0.00005690494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004447496,"about_ca_topic_score_gemma":0.00002364814,"domain_scores_codex":[0.9985906,0.0001702078,0.0003339542,0.000280715,0.0004781654,0.000146334],"domain_scores_gemma":[0.9987837,0.0005247525,0.0001382415,0.0003130253,0.0001587187,0.00008158079],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"qualitative","study_design_scores_codex":[0.0003435385,0.0009698301,0.03909256,0.0001239361,0.0001431543,0.00001998212,0.9321103,0.00000460844,0.0001704101,0.002723187,0.001274069,0.02302441],"study_design_scores_gemma":[0.002555289,0.001603193,0.4009212,0.00041718,0.00003489076,9.8168e-7,0.5859582,0.0001632513,0.00002168957,0.007760641,0.0004904835,0.0000729895],"study_design_candidate":"qualitative","study_design_consensus":"qualitative","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9763688,0.0006398167,0.000004698452,0.02073002,0.000105596,0.001464969,0.00001244533,0.000008670464,0.0006649586],"genre_scores_gemma":[0.9983284,0.001136424,0.0000267536,0.0002517899,0.00007806395,0.0000295088,0.00003390904,0.0000135129,0.0001016549],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3618286,"threshold_uncertainty_score":0.2757165,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4324116640","doi":"10.1016/j.gimo.2023.100266","title":"P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs*","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Peptidase Inhibition and Analysis","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"","keywords":"Biology; Neuroscience; Computational biology; Phenotype; Induced pluripotent stem cell; Evolutionary biology; Genetics; Gene; Embryonic stem cell","authors":[{"name":"Gholson J. Lyon","is_ca":false},{"name":"Marall Vedaie","is_ca":false},{"name":"Travis Beisheim","is_ca":false},{"name":"Agnes Park","is_ca":false},{"name":"Elaine Marchi","is_ca":false},{"name":"Leah Gottlieb","is_ca":false},{"name":"Lois J. Starr","is_ca":false},{"name":"Katherine Sandomirsky","is_ca":false},{"name":"Hanyin Cheng","is_ca":false},{"name":"Isabelle Preddy","is_ca":false},{"name":"Marcellus Tseng","is_ca":false},{"name":"Quan Li","is_ca":true},{"name":"Kai Wang","is_ca":false},{"name":"Maureen Gavin","is_ca":false},{"name":"Karen Amble","is_ca":false},{"name":"Ronen Marmorstein","is_ca":false},{"name":"Ellen Herr-Israel","is_ca":false},{"name":"Randie Harpell","is_ca":false},{"name":"Melissa Nashat","is_ca":false},{"name":"Ning Ma","is_ca":false},{"name":"Nadjet Belbachir","is_ca":false},{"name":"Joseph C. Wu","is_ca":false},{"name":"Tzung‐Chien Hsieh","is_ca":false},{"name":"Peter Krawitz","is_ca":false},{"name":"Alan F. Rope","is_ca":false},{"name":"Frederick J. Monsma","is_ca":false},{"name":"Josephine Wesely","is_ca":false},{"name":"Yuren Chen","is_ca":false},{"name":"Christopher A. Hunter","is_ca":false},{"name":"Lauren Bauer","is_ca":false},{"name":"Tom Rusielewicz","is_ca":false},{"name":"Stephen C. Kneeland","is_ca":false},{"name":"Kathy Snow","is_ca":false},{"name":"Steve Murray","is_ca":false},{"name":"Andrea Gropman","is_ca":false},{"name":"Matthew T. Whitehead","is_ca":false},{"name":"Andrew Garcia","is_ca":false},{"name":"Fatima Inusa","is_ca":false},{"name":"Joseph Longo","is_ca":false},{"name":"Nicole Fleischer","is_ca":false},{"name":"David Bolton","is_ca":false},{"name":"Martin Reese","is_ca":false},{"name":"Yu Hu","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.09625624727970238,"gpt":0.3160798005043164,"spread":0.2198235532246141,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000444026,0.0001390535,0.0004477164,0.0002447495,0.00008072432,0.00001837873,0.0001037424,0.0000795849,0.00003346636],"category_scores_gemma":[0.00007974433,0.00009861425,0.00002387619,0.0006151083,0.0002779186,0.00008096144,0.0003132315,0.0001600231,3.322537e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003766284,"about_ca_system_score_gemma":0.00006948252,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009226159,"about_ca_topic_score_gemma":0.00003038843,"domain_scores_codex":[0.9987986,0.00007071553,0.0004619046,0.0002549695,0.0002524979,0.0001613314],"domain_scores_gemma":[0.9994676,0.00008887413,0.0001502084,0.0001870691,0.0000308104,0.0000754476],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0006259532,0.0004005031,0.1393052,0.002689666,0.001335998,0.0003338794,0.01935291,0.007116776,0.804156,0.02162676,0.0008562243,0.00220012],"study_design_scores_gemma":[0.02331824,0.001092169,0.1014237,0.01371197,0.00170136,0.0008531456,0.02747858,0.7543122,0.0149667,0.06018721,0.000022263,0.0009324146],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976199,0.0004622466,0.0004267798,0.0005275016,0.00003509014,0.0003646403,0.00001563098,0.00001022307,0.0005379871],"genre_scores_gemma":[0.9982066,0.0008715909,0.0003544672,0.00008180307,0.000006331595,0.000002959805,0.00002512262,0.0000192503,0.0004318367],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7891893,"threshold_uncertainty_score":0.4021372,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392589427","doi":"10.1016/j.gimo.2024.101649","title":"P745: High-fidelity whole genome sequencing of FFPE tumor-derived nucleic acids stored at ambient temperature","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University Health Network","funders":"","keywords":"Nucleic acid; Genome; Computational biology; Fidelity; Biology; Genetics; Computer science; Gene","authors":[{"name":"Farnoosh Abbas‐Aghababazadeh","is_ca":true},{"name":"Lee Organick","is_ca":false},{"name":"Michael Blas","is_ca":false},{"name":"Benjamin Haibe‐Kains","is_ca":true},{"name":"James L. Banal","is_ca":false},{"name":"Celeste Yu","is_ca":true},{"name":"Philippe L. Bédard","is_ca":true},{"name":"Heather Williams","is_ca":false}],"retraction":null,"screen_n_in":null,"score":{"opus":0.01786925219478167,"gpt":0.2855487617342628,"spread":0.2676795095394812,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005388891,0.0002493313,0.0004098648,0.0001005451,0.00007120155,0.00005590179,0.0006498709,0.0001665035,0.0001318399],"category_scores_gemma":[0.0001521759,0.0002279353,0.00006613886,0.0002402722,0.0002096082,0.000005396996,0.0008678876,0.0002078003,0.00001513506],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002182352,"about_ca_system_score_gemma":0.0003621212,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005856931,"about_ca_topic_score_gemma":0.001012436,"domain_scores_codex":[0.9981876,0.00007028392,0.0005362202,0.0006256122,0.0002439785,0.0003363023],"domain_scores_gemma":[0.9989049,0.00003861288,0.000106074,0.0006787668,0.0001285665,0.000143024],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008251411,0.00002708081,0.001289364,0.0001017079,0.0000531737,0.00004969948,0.0004253615,0.001303758,0.9921191,0.00008666771,0.004035685,0.0004258578],"study_design_scores_gemma":[0.003071511,0.001619908,0.03821661,0.0006168886,0.0001478228,0.0000699228,0.001012761,0.0006130181,0.7938914,0.001133871,0.158816,0.0007902738],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9864362,0.01054455,0.0001082658,0.0006604119,0.0007027754,0.0005440642,0.0001964394,0.00001035898,0.0007968718],"genre_scores_gemma":[0.9938421,0.002036152,0.001631671,0.0008233016,0.0005422204,0.00004110157,0.0004676075,0.00005393146,0.0005619145],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1982278,"threshold_uncertainty_score":0.9294932,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392589474","doi":"10.1016/j.gimo.2024.101565","title":"P660: Functional analysis of X-linked dyskeratosis congenita gene (DKC1) showed altered nucleolar localization and post-translational modification","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"University of Toronto","funders":"","keywords":"Dyskeratosis congenita; Gene; Genetics; Biology; Telomere","authors":[{"name":"Taimoor I. Sheikh","is_ca":false},{"name":"John B. Vincent","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.0624470353152099,"gpt":0.3431039915939415,"spread":0.2806569562787316,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005664037,0.0001946668,0.0005576262,0.0007921316,0.00005841778,0.00004822909,0.000169742,0.0001362636,0.0003788171],"category_scores_gemma":[0.0001046343,0.0001712873,0.00007033411,0.001491863,0.000225274,0.0001152392,0.00005900228,0.0001741783,0.000004345057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005173574,"about_ca_system_score_gemma":0.0001793301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004951863,"about_ca_topic_score_gemma":0.0002800422,"domain_scores_codex":[0.9979937,0.00009259498,0.0007064865,0.0004945025,0.0005186885,0.0001940454],"domain_scores_gemma":[0.9989265,0.0001611278,0.00009969644,0.000342848,0.0003432685,0.0001265106],"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":[0.001083879,0.0005035766,0.4201285,0.0008224313,0.002803036,0.0000682141,0.005125781,0.01235518,0.5065917,0.003307016,0.00318834,0.04402237],"study_design_scores_gemma":[0.001771186,0.0002431646,0.748841,0.000209557,0.00179667,0.00001958994,0.0003083274,0.2408865,0.0028524,0.0003507122,0.002520446,0.0002004787],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9631903,0.007748226,0.02440057,0.002867993,0.0003317854,0.0008556762,0.00009983846,0.00005609877,0.0004495269],"genre_scores_gemma":[0.9939393,0.0009601892,0.002498943,0.000483368,0.0002158908,0.00003020384,0.001631139,0.00003653856,0.0002044733],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5037392,"threshold_uncertainty_score":0.6984892,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4408531462","doi":"10.1016/j.gimo.2025.102848","title":"P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Biomedical Ethics and Regulation","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Data curation; Guideline; Computer science; Computational biology; Biology; Data science; Medicine; Pathology","authors":[{"name":"Shruthi Mohan","is_ca":false},{"name":"Irene DeBiase","is_ca":false},{"name":"Tatiana Yuzyuk","is_ca":false},{"name":"Alexa Dickson","is_ca":false},{"name":"Tiziano Pramparo","is_ca":false},{"name":"Stephanie Francis","is_ca":false},{"name":"Pepper St. Clair","is_ca":false},{"name":"R. Logan","is_ca":false},{"name":"Randy Cockerell","is_ca":false},{"name":"Raquel Fernandez","is_ca":false},{"name":"Ashley Ratzsch","is_ca":false},{"name":"Emily Kyle","is_ca":false},{"name":"Meredith Weaver","is_ca":false},{"name":"Sharon F. Suchy","is_ca":false},{"name":"Ann Moser","is_ca":false},{"name":"Rong Mao","is_ca":false},{"name":"Nancy Braverman","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.2159680249007361,"gpt":0.4358352510451503,"spread":0.2198672261444141,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001713165,0.0001963175,0.0004068422,0.0001309916,0.0002515294,0.00006751795,0.0004913914,0.0002950321,0.0003139164],"category_scores_gemma":[0.0006590949,0.0001248448,0.00006292415,0.0004778744,0.0003858759,0.0001093633,0.0001626617,0.0003407653,0.000009032624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001152113,"about_ca_system_score_gemma":0.000456372,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009287219,"about_ca_topic_score_gemma":0.0005249818,"domain_scores_codex":[0.997617,0.0001360345,0.001067183,0.000482719,0.0004465685,0.0002504921],"domain_scores_gemma":[0.9980285,0.0005438484,0.0002069306,0.000682017,0.0004249067,0.0001138691],"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":[0.001293614,0.001059296,0.001791297,0.0001818939,0.0005047231,0.00005920141,0.01306685,0.0005435791,0.06003561,0.2114533,0.257737,0.4522736],"study_design_scores_gemma":[0.008243605,0.0005829689,0.03840455,0.001060656,0.0003900417,0.00002392819,0.003048769,0.1216761,0.001078982,0.08211147,0.7430459,0.0003329889],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.004379651,0.005001276,0.492058,0.4878486,0.001648717,0.004092718,0.0000617179,0.00004292584,0.004866359],"genre_scores_gemma":[0.8136075,0.006755946,0.1351804,0.02879601,0.00627197,0.0008294128,0.004556994,0.00008677553,0.003915082],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.8092278,"threshold_uncertainty_score":0.5091023,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null},{"id":"W4392589414","doi":"10.1016/j.gimo.2024.101596","title":"P692: Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false},"ca_institutions":"Vitalité Health Network; Université de Moncton; Université de Sherbrooke","funders":"","keywords":"Spinocerebellar ataxia; Genetics; Identification (biology); Biology; Gene","authors":[{"name":"M Gagnon","is_ca":true},{"name":"Nadia Bouhamdani","is_ca":true},{"name":"Mouna Ben Amor","is_ca":true}],"retraction":null,"screen_n_in":null,"score":{"opus":0.05115066964593987,"gpt":0.3443479235556834,"spread":0.2931972539097435,"validation_status":"score_only:v0-immature-baseline"},"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000851391,0.000171652,0.0002417369,0.0001610043,0.00006419623,0.00009913577,0.0009772794,0.00006276952,0.0001240047],"category_scores_gemma":[0.0009250311,0.0001177464,0.00001687706,0.001255413,0.0002350377,0.0001458198,0.0001127015,0.0002281233,0.00001835195],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008029439,"about_ca_system_score_gemma":0.0002263488,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000114877,"about_ca_topic_score_gemma":0.000467064,"domain_scores_codex":[0.997407,0.0007497368,0.0005060943,0.0005707869,0.0005227568,0.0002436501],"domain_scores_gemma":[0.998952,0.0002153809,0.0001506684,0.0005282304,0.00009813317,0.00005553931],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000124798,0.0002714846,0.005234739,0.00005668472,0.00001452979,0.00009886552,0.002496453,0.005339968,0.9764256,0.0004240336,0.0003930092,0.00911979],"study_design_scores_gemma":[0.001210023,0.001213423,0.2647558,0.0003777072,0.00008194058,0.00002175724,0.0005223986,0.018654,0.7111285,0.001378102,0.0004091082,0.0002473377],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967194,0.0007893404,0.00005461846,0.0008702968,0.000255287,0.0008993107,0.00002122135,0.00001819468,0.0003723645],"genre_scores_gemma":[0.9985185,0.0004197082,0.0001147367,0.0004841293,0.00007731344,0.00006184631,0.00005405783,0.00002828537,0.0002414337],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2652972,"threshold_uncertainty_score":0.4801558,"prediction_status":"machine_predicted_unvalidated"},"labels":[],"label_agreement":null}]}