{"id":"W3169642516","doi":"10.1038/s41436-021-01212-y","title":"Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Perelman School of Medicine, University of Pennsylvania; Vlaamse regering; National Institute of Neurological Disorders and Stroke; Bundesministerium für Bildung und Forschung; Fondation Leducq; National Institutes of Health; U.S. Department of Health and Human Services; NHLBI Division of Intramural Research; Children's Mercy Hospital; National Heart, Lung, and Blood Institute; Heart and Stroke Foundation of Canada; Hospital for Sick Children; National Center for Advancing Translational Sciences; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; British Heart Foundation; University of Pennsylvania; Fonds Wetenschappelijk Onderzoek; Deutsches Zentrum für Herz-Kreislaufforschung","keywords":"Missense mutation; Exome sequencing; Biology; Exome; Kinase insert domain receptor; Genetics; Tetralogy of Fallot; Cancer research; Phenotype; Gene; Medicine; Vascular endothelial growth factor; Internal medicine; Vascular endothelial growth factor A; VEGF receptors; Heart disease","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":[0.0003797475,0.0008008486,0.0005225375,0.001393185,0.0003929679,0.0002946654,0.0003586581,0.0005869981,0.002434741],"category_scores_gemma":[0.001745473,0.0001376807,0.0002766918,0.0007231806,0.0005181857,0.0002096059,0.000366821,0.0003337102,0.0001992828],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001472369,"about_ca_system_score_gemma":0.0001074774,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005059632,"about_ca_topic_score_gemma":0.0006066421,"domain_scores_codex":[0.9993863,0.0001047777,0.00007242115,0.0002079973,0.0001744999,0.00005391181],"domain_scores_gemma":[0.9992111,0.0002693319,0.000354383,0.00004039037,0.00004198164,0.00008288617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001408251,0.0001377981,0.7089372,0.0002610327,0.0003626116,0.07303735,0.0006415145,0.0009638635,0.1834027,0.001080314,0.0009836138,0.02878377],"study_design_scores_gemma":[0.0000418106,0.000251851,0.8114688,0.00004313604,0.0001670189,0.1654007,0.0002398272,0.001623752,0.01802677,0.0007583007,0.001949917,0.00002817276],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972263,0.0005747172,0.001354718,0.00006537387,0.00001398447,0.000007835185,0.0002961519,0.00003679683,0.0004240388],"genre_scores_gemma":[0.9986553,0.0001731563,0.0006917294,0.00002940106,0.00002144541,0.000003971699,0.0002274588,0.000007614576,0.0001898622],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002434741,"threshold_uncertainty_score":0.008144975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02675051107241532,"score_gpt":0.3044273855080504,"score_spread":0.277676874435635,"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."}}