{"id":"W2618913536","doi":"10.1038/ncomms15481","title":"Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve","year":2017,"lang":"en","type":"article","venue":"Nature Communications","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Center for Advancing Translational Sciences; National Cancer Institute; NIH Office of the Director; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Walter Reed National Military Medical Center; National Institutes of Health; H. Lundbeck A/S; University of Oxford; National Institute of Neurological Disorders and Stroke; British Heart Foundation; Seconda Università degli Studi di Napoli; Broad Institute; Common Fund; University of Texas Health Science Center at Houston; Universität Hamburg; University of Miami; Icahn School of Medicine at Mount Sinai; Vanderbilt University; University of Chicago; University of Tasmania; Harvard University; University of Michigan; Hjerteforeningen; Fundació Institut de Recerca Hospital Universitari Vall d’Hebron; Université de Genève; Fonden til Lægevidenskabens Fremme; Hebrew University of Jerusalem; Fondation Leducq; National Institute on Drug Abuse; University of Pennsylvania; Università degli Studi di Napoli Federico II; Lundbeckfonden; A.P. Møller og Hustru Chastine Mc-Kinney Møllers Fond til almene Formaal; Andrea and Charles Bronfman Philanthropies; Thoracic Surgery Foundation for Research and Education","keywords":"GATA4; Bicuspid aortic valve; Induced pluripotent stem cell; Transcription factor; Biology; Heart development; Heart valve; Internal medicine; Gene; Aortic valve; Genetics; Medicine; Embryonic stem cell","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001983938,0.0001101551,0.0001115023,0.00005001408,0.0004930457,0.0001377608,0.0009834011,0.0002572079,0.000005799254],"category_scores_gemma":[0.0003795513,0.0001133038,0.00004868436,0.00007256366,0.0003240746,0.00001085186,0.00127198,0.000487368,0.00001096103],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002138624,"about_ca_system_score_gemma":0.000100966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008101913,"about_ca_topic_score_gemma":0.0007997454,"domain_scores_codex":[0.99913,0.0001051207,0.0001629696,0.0002714329,0.0001037044,0.0002267539],"domain_scores_gemma":[0.9966356,0.00002286591,0.00006831662,0.003080988,0.0001025179,0.00008978213],"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":[0.0000311365,0.00009894394,0.04017533,0.00003586787,0.00005432007,0.000003125974,0.0000593149,0.000002722073,0.9389161,0.0003540108,0.000163719,0.02010535],"study_design_scores_gemma":[0.0004164604,0.00007643153,0.9738487,0.0000409071,0.00001110801,0.00002393074,0.00001077935,0.0008887645,0.01369086,0.0001865742,0.01062358,0.0001819066],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916804,0.00582369,0.00001358387,0.0007614648,0.00002947239,0.0004643564,0.00001405963,0.00001264924,0.001200294],"genre_scores_gemma":[0.9966776,0.0004131134,0.002503181,0.00006053896,0.00003438398,0.00009855641,0.00004037287,0.00002156808,0.0001507306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9336734,"threshold_uncertainty_score":0.4620394,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02169407856663551,"score_gpt":0.3380162467693376,"score_spread":0.3163221682027021,"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."}}