{"id":"W4200036706","doi":"10.1161/circresaha.120.317107","title":"Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries","year":2021,"lang":"en","type":"article","venue":"Circulation Research","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Centre for Addiction and Mental Health; McMaster University Medical Centre; University Health Network; Children's Hospital of Eastern Ontario; London Health Sciences Centre; Centre Hospitalier Universitaire Sainte-Justine; McMaster University; Western University; McGill Genome Centre; Kingston General Hospital; Montreal Heart Institute","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; Wellcome Trust; Children's Heart Foundation; National Human Genome Research Institute; National Center for Research Resources; Medical Research Council; National Heart, Lung, and Blood Institute; Hartstichting; Fondation Leducq; Motor Neurone Disease Association; National Institute for Health and Care Research; British Heart Foundation","keywords":"Great arteries; Genetics; Single-nucleotide polymorphism; Biology; Locus (genetics); Genome-wide association study; Haplotype; Allele; Gene; Zebrafish; Mendelian inheritance; SNP; Enhancer; Transcription factor; Genotype; Heart disease; Medicine; Internal medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009528855,0.001055123,0.0006393266,0.001166312,0.0005072603,0.0006134687,0.0007041845,0.001025057,0.002895723],"category_scores_gemma":[0.004494627,0.0002982739,0.001062419,0.002058669,0.0007818062,0.0002113515,0.0006836864,0.0008984516,0.0002353446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000204341,"about_ca_system_score_gemma":0.0004515671,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0032962,"about_ca_topic_score_gemma":0.002537383,"domain_scores_codex":[0.9988121,0.0002791674,0.0001493324,0.0004867484,0.0001765792,0.00009617982],"domain_scores_gemma":[0.9973553,0.001212441,0.0008937536,0.0002100974,0.0001264178,0.0002020745],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007442174,0.0000567005,0.9801138,0.0001467897,0.001930871,0.001378489,0.0001090043,0.0006667493,0.004632741,0.0003342045,0.0003352922,0.009551103],"study_design_scores_gemma":[0.00009847342,0.000226449,0.9892374,0.00008151201,0.001736415,0.003784495,0.00009518928,0.001583172,0.001199803,0.001128035,0.0008068558,0.00002213324],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922062,0.00347273,0.001860138,0.0003573555,0.00005676688,0.00003148493,0.00109101,0.00004463807,0.0008797141],"genre_scores_gemma":[0.9978795,0.0006546821,0.0006972119,0.00005095546,0.00004852472,0.00001314699,0.0004935232,0.00000761956,0.0001549244],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0032962,"threshold_uncertainty_score":0.009687126,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03063932041079237,"score_gpt":0.337283427132971,"score_spread":0.3066441067221786,"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."}}