{"id":"W3021993914","doi":"10.1038/s41467-020-15905-6","title":"Protein-altering germline mutations implicate novel genes related to lung cancer development","year":2020,"lang":"en","type":"article","venue":"Nature Communications","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Paul's Hospital; University of British Columbia; Princess Margaret Cancer Centre; BC Cancer Agency; Lunenfeld-Tanenbaum Research Institute; University of Toronto; Sinai Health System; Université Laval; Institut universitaire de cardiologie et de pneumologie de Québec","funders":"National Center for Research Resources; U.S. National Library of Medicine; National Human Genome Research Institute; National Center for Advancing Translational Sciences; Medical Research Council; Fonds de Recherche du Québec - Santé; Canadian Cancer Society Research Institute; Institut universitaire de cardiologie et de pneumologie de Québec, Université Laval; University of Texas MD Anderson Cancer Center; National Institutes of Health; National Cancer Institute; Fundación para el Fomento en Asturias de la Investigación Científica Aplicada y la Tecnología; Institut National Du Cancer; Wellcome Trust; World Health Organization; Cancer Research UK; Herlev Hospital; National Institute for Health and Care Research; Instytut Medycyny Pracy im. prof. J. Nofera; Medical Research and Materiel Command; Georgia Clinical and Translational Science Alliance; Canadian Institutes of Health Research; Sheffield Hospitals Charity; Vanderbilt University Medical Center; U.S. Department of Defense; Roy Castle Lung Cancer Foundation; Princess Margaret Cancer Foundation; Cancer Prevention and Research Institute of Texas; British Lung Foundation; Cancer Care Ontario; Sundhed og Sygdom, Det Frie Forskningsråd; National Institute of General Medical Sciences; Université Laval; Universidad de Oviedo; Vanderbilt University; Centre International de Recherche sur le Cancer","keywords":"Germline; Gene; Germline mutation; Genetics; Biology; Lung cancer; Mutation; Computational biology; Cancer research; Medicine; Oncology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000416912,0.0003000088,0.0003180896,0.0007129968,0.0002650786,0.0004221621,0.0003266699,0.0004418477,0.002471741],"category_scores_gemma":[0.001249609,0.0001204418,0.0003293275,0.0008325458,0.0003461681,0.0001380288,0.0002233088,0.0002689522,0.0002872942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001617849,"about_ca_system_score_gemma":0.000197108,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001405509,"about_ca_topic_score_gemma":0.002261081,"domain_scores_codex":[0.9996246,0.00006386428,0.00004342433,0.0001350623,0.00008727914,0.000045813],"domain_scores_gemma":[0.9988993,0.0004203355,0.0004404862,0.00008086462,0.00006919937,0.00008976697],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00045113,0.00004180178,0.8602221,0.0001173669,0.0005341202,0.001904738,0.00008134388,0.0003201103,0.1229255,0.0002192112,0.0004231522,0.01275958],"study_design_scores_gemma":[0.00002689017,0.0001519122,0.9802868,0.00002039436,0.0002390292,0.004491074,0.00008107694,0.0006945935,0.01206043,0.0004236732,0.001514837,0.000009273783],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953419,0.001893313,0.001053055,0.0001134604,0.00001740074,0.000007903566,0.0008802363,0.00004227891,0.0006502866],"genre_scores_gemma":[0.9989272,0.0001704855,0.0004251158,0.00004919623,0.00001262999,0.000003452481,0.0002625758,0.000006558609,0.0001428173],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002471741,"threshold_uncertainty_score":0.008268833,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0263516595480273,"score_gpt":0.3334519820909678,"score_spread":0.3071003225429405,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}