{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002504679,0.000207221,0.0002408085,0.0001104959,0.0001076216,0.00007009623,0.0001922369,0.0001723791,0.00004744107],"category_scores_gemma":[0.0002837648,0.0002005116,0.00006549959,0.0001424563,0.000113282,0.000004468572,0.0001721563,0.000158888,0.00002029929],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005136834,"about_ca_system_score_gemma":0.00004899786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005520496,"about_ca_topic_score_gemma":0.0003648491,"domain_scores_codex":[0.998268,0.0002278366,0.0002742495,0.0004222207,0.0004437412,0.0003639478],"domain_scores_gemma":[0.9989461,0.0000603758,0.0001025378,0.0004204106,0.0003608283,0.0001097254],"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":[0.00002059566,0.0002942893,0.331351,0.00001826806,0.0003087098,0.00001433195,0.0001226686,0.00005324275,0.6673536,0.000007631696,0.0002658228,0.0001898211],"study_design_scores_gemma":[0.0009960571,0.002830511,0.9059667,0.0000119598,0.00006387342,0.000001863502,0.0001847265,0.00001696421,0.08927492,0.0001558775,0.0002397122,0.0002568147],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977482,0.0004703921,0.0000691988,0.00003269903,0.00002409067,0.0008053939,0.00001135072,0.00001349717,0.0008251696],"genre_scores_gemma":[0.9983441,0.00003998969,0.00005240608,0.0001129108,0.00003070553,0.00005529801,0.00007747738,0.00004782477,0.001239277],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5780787,"threshold_uncertainty_score":0.8176627,"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."}}