{"id":"W2137562589","doi":"10.1016/j.ajhg.2014.03.007","title":"Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":187,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Medical Research Council; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Wellcome Trust; British Heart Foundation; Deutsches Zentrum für Herz-Kreislaufforschung; National Heart, Lung, and Blood Institute; Heart and Stroke Foundation of Canada","keywords":"Exome sequencing; Genetics; Biology; Missense mutation; Offspring; Exome; Gene; Mutation; Pregnancy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008147853,0.0001644983,0.0003311733,0.0001928778,0.00007642899,0.00003951833,0.000456892,0.00005189292,0.00002225008],"category_scores_gemma":[0.0001455954,0.0001319786,0.0001214976,0.0002663796,0.0003563172,0.000005544094,0.0001667402,0.000358143,0.00001056004],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003909427,"about_ca_system_score_gemma":0.0001178924,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005078838,"about_ca_topic_score_gemma":0.0009359263,"domain_scores_codex":[0.9981642,0.0005046788,0.0004398092,0.0002038781,0.0002935917,0.0003938353],"domain_scores_gemma":[0.9990371,0.00007651356,0.0001937773,0.0004292247,0.0001381964,0.0001251248],"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":[0.0003495356,0.0002194986,0.2640343,0.000018154,0.00009191179,0.0001060092,0.0005626365,0.0004115583,0.7269036,0.00005050296,0.000604465,0.00664776],"study_design_scores_gemma":[0.002406682,0.007131741,0.9412393,0.00007166114,0.00005521174,0.0004385692,0.0006706571,0.000155755,0.04268377,0.0005570035,0.004096488,0.0004931538],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984782,0.0007552784,0.00004740565,0.0001189998,0.00006812363,0.0001489465,0.000003783839,0.000002603566,0.0003766484],"genre_scores_gemma":[0.9990584,0.0001181111,0.000150489,0.0002636965,0.0002585554,0.000004353528,0.000003628903,0.00003220805,0.0001106143],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6842198,"threshold_uncertainty_score":0.5381933,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0177238043880768,"score_gpt":0.3075158477561671,"score_spread":0.2897920433680903,"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."}}