{"id":"W2023013441","doi":"10.1038/ng.2637","title":"Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16","year":2013,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":165,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"National Heart, Lung, and Blood Institute; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"Genome-wide association study; Odds ratio; Biology; Genetics; Cohort; Locus (genetics); Population; Internal medicine; Genotype; Medicine; Single-nucleotide polymorphism; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003655212,0.0002540619,0.0003090671,0.00007581623,0.000169255,0.00006549617,0.000266844,0.0004218169,0.00008713813],"category_scores_gemma":[0.002025153,0.0002497728,0.0007243119,0.0001555792,0.00008387383,0.00001101275,0.0003760284,0.0002618384,0.00004444961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000151647,"about_ca_system_score_gemma":0.0001519057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005176394,"about_ca_topic_score_gemma":0.001628691,"domain_scores_codex":[0.9977922,0.0001974805,0.0003874833,0.0006228597,0.0005169887,0.000482941],"domain_scores_gemma":[0.9979884,0.0003060741,0.0001386648,0.0006126981,0.000733755,0.0002203995],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006978434,0.0004059831,0.6565785,0.0001151359,0.000643466,0.000002432368,0.000147927,0.00009731373,0.3391914,3.049796e-7,0.001787416,0.0003322734],"study_design_scores_gemma":[0.005628985,0.002770006,0.9153386,0.00001078533,0.0005532257,0.000002741596,0.0002892984,0.0001997994,0.06815334,0.0001651651,0.00621879,0.0006692499],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892161,0.007186169,0.00002614916,0.00008594018,0.0003900902,0.002760736,0.0002855362,0.00002029341,0.00002893903],"genre_scores_gemma":[0.9976094,0.0000368041,0.0001467129,0.00007098728,0.000579639,0.0001283667,0.0003012132,0.00004802671,0.001078807],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.271038,"threshold_uncertainty_score":0.9999955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009900601675914052,"score_gpt":0.280346651679141,"score_spread":0.2704460500032269,"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."}}