{"id":"W2096724368","doi":"10.1093/hmg/dds552","title":"Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":109,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Ontario Ministry of Research and Innovation; Menzies Centre for Australian Studies, King's College London, University of London; Biotechnology and Biological Sciences Research Council; National Institutes of Health; King's College London; National Institute for Health and Care Research; National Eye Institute; British Heart Foundation; Wellcome Trust; Heart and Stroke Foundation of Canada","keywords":"Biology; Genome-wide association study; Genetics; Tetralogy of Fallot; Allele; Genetic association; Single-nucleotide polymorphism; Chromosome; Odds ratio; Genotype; Gene; Heart disease; Internal medicine","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":[0.00105424,0.0006775444,0.0007917481,0.001320119,0.0005162499,0.0003871964,0.0006075621,0.0008821288,0.001221518],"category_scores_gemma":[0.003448622,0.000310827,0.0005208908,0.001343793,0.0006237761,0.0001696306,0.0006266046,0.0006437353,0.000139631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002384589,"about_ca_system_score_gemma":0.0003424031,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005059266,"about_ca_topic_score_gemma":0.005945174,"domain_scores_codex":[0.9993388,0.0002555921,0.00004231191,0.0001839945,0.0001002597,0.00007895887],"domain_scores_gemma":[0.9985206,0.0005021941,0.0004880489,0.0001041296,0.0001037307,0.0002814417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001074215,0.00009146909,0.985456,0.00003535624,0.0007297606,0.0009843432,0.000157899,0.0001201103,0.00708686,0.00008095817,0.0002393367,0.003943683],"study_design_scores_gemma":[0.00009446967,0.0002489082,0.9973298,0.000008162522,0.0002238614,0.001176408,0.00006331462,0.0002575553,0.0002714114,0.00008734034,0.0002326492,0.000006081905],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989231,0.0005453785,0.0002224644,0.00005446319,0.000005478782,0.000007967797,0.0001373675,0.000008756246,0.00009491848],"genre_scores_gemma":[0.9987067,0.0002057629,0.0005637388,0.0000291442,0.00001369205,0.00001506289,0.0003386755,0.000004065684,0.0001230903],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005059266,"threshold_uncertainty_score":0.01005965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01354628785180434,"score_gpt":0.2675643585998074,"score_spread":0.2540180707480031,"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."}}