{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002971967,0.0004711823,0.0002763649,0.0009014313,0.0004548855,0.0002958683,0.0003354317,0.00059322,0.001831227],"category_scores_gemma":[0.000991658,0.0001880173,0.0003949849,0.0005331702,0.000406123,0.0001164098,0.000342477,0.0003905352,0.0001727896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001450527,"about_ca_system_score_gemma":0.0001321507,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00193125,"about_ca_topic_score_gemma":0.002682968,"domain_scores_codex":[0.9994392,0.0001373208,0.00006807604,0.0001795696,0.0001160624,0.00005983521],"domain_scores_gemma":[0.9995183,0.0001941895,0.0001567694,0.00003766611,0.00002911078,0.000064017],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001492259,0.0001127468,0.6184501,0.0001777429,0.0006418648,0.01025448,0.000589906,0.0005770014,0.3492305,0.0005867906,0.0003583749,0.01752821],"study_design_scores_gemma":[0.0000929448,0.0002731951,0.9442939,0.00006240495,0.0004986085,0.02546219,0.0002555486,0.00112081,0.0254175,0.0005336555,0.001962505,0.00002673422],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982318,0.0004376546,0.0006883169,0.00004301217,0.00001543401,0.00000784319,0.0002360622,0.00001906671,0.0003208673],"genre_scores_gemma":[0.9991717,0.00008613052,0.0004359437,0.00002461203,0.000006524687,0.000003227802,0.0001163437,0.000005625357,0.0001498584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00193125,"threshold_uncertainty_score":0.006126106,"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."}}