{"id":"W2763464096","doi":"10.1161/circgenetics.116.001690","title":"Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the <i>GPR98</i> Locus on 5q14.3","year":2017,"lang":"en","type":"article","venue":"Circulation Cardiovascular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Mental Health; National Heart, Lung, and Blood Institute; Institute of Genetics and Genomics of Geneva; School of Public Health, University of Texas Health Science Center at Houston; Perelman School of Medicine, University of Pennsylvania; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Tel Aviv University; University of Toronto; Institute of Genetics; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; University of Pennsylvania; Children's Hospital of Philadelphia; University of Michigan; College of Pharmacy, University of Michigan; University of Texas Health Science Center at Houston; Canadian Institutes of Health Research; American Heart Association; National Science Foundation","keywords":"Genome-wide association study; Biology; Genetics; Tetralogy of Fallot; Locus (genetics); Single-nucleotide polymorphism; DiGeorge syndrome; Chromatin; Gene; MEF2C; Genetic association; Heart disease; Genotype; Transcription factor; Medicine; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002933682,0.0001608286,0.0002895797,0.0001478525,0.000226353,0.0001295979,0.0006258758,0.0001536971,0.000001707406],"category_scores_gemma":[0.001162747,0.0001370017,0.0003300582,0.0001924564,0.00004928386,0.00001067263,0.0001029565,0.0001592015,0.000007953897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009394532,"about_ca_system_score_gemma":0.00007232843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001195314,"about_ca_topic_score_gemma":0.0004550921,"domain_scores_codex":[0.9975687,0.000609917,0.0003593362,0.0004380777,0.0006905535,0.0003334769],"domain_scores_gemma":[0.9981043,0.000180387,0.00009722705,0.00136485,0.0002132431,0.00004001987],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002045323,0.0008079375,0.8255816,0.0001365644,0.001241662,0.00006875214,0.003333268,0.1087951,0.05132873,0.0000336171,0.0001692528,0.00829907],"study_design_scores_gemma":[0.001031824,0.0003741337,0.9958293,0.00001086278,0.00008475962,0.000008971597,0.0005082519,0.0002531107,0.0008103363,0.0001179769,0.0008147737,0.0001556529],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940687,0.0006624137,0.002425515,0.0001650346,0.0001507268,0.002346624,0.00002696956,0.000003582369,0.0001503961],"genre_scores_gemma":[0.9993538,0.00007434027,0.00003978937,0.0001209894,0.00009478682,0.0002042668,0.00004959181,0.00002436434,0.0000380593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1702478,"threshold_uncertainty_score":0.5586768,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02940100285065012,"score_gpt":0.2938844256620808,"score_spread":0.2644834228114307,"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."}}