{"id":"W3096540129","doi":"10.3389/fgene.2020.00957","title":"Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences","year":2020,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; Ontario Genomics; Hospital for Sick Children; Toronto General Hospital; University of Toronto; SickKids Foundation; University Health Network; Ted Rogers Centre for Heart Research","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; GlaxoSmithKline; University Health Network; University of Toronto; W. Garfield Weston Foundation; Garfield Weston Foundation","keywords":"Genetics; Gene; Biology; Missense mutation; Tetralogy of Fallot; Genome; Phenotype; Candidate gene; Genome-wide association study; Bonferroni correction; Computational biology; Genotype; Medicine; Single-nucleotide polymorphism; 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":[0.0004841612,0.0002128999,0.0005236297,0.0015703,0.0004488026,0.0003856294,0.0003145252,0.0003168704,0.00146761],"category_scores_gemma":[0.001935894,0.000134593,0.0007061888,0.001904736,0.000267846,0.0001141885,0.0004254885,0.00034207,0.0003806044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002641147,"about_ca_system_score_gemma":0.0004486499,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003441348,"about_ca_topic_score_gemma":0.007128668,"domain_scores_codex":[0.9994045,0.00007676479,0.00005739709,0.0002274116,0.0001337681,0.0001000045],"domain_scores_gemma":[0.9990786,0.0004421198,0.0001722401,0.0001382196,0.00005928156,0.0001094785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002224968,0.00008262196,0.5903476,0.0004836415,0.001235756,0.01149351,0.001120175,0.002932838,0.3266285,0.001729859,0.002991348,0.0587291],"study_design_scores_gemma":[0.00004697089,0.0001232941,0.9807687,0.00003763033,0.0003787839,0.004699061,0.0001756377,0.001451998,0.004895029,0.000612715,0.006783211,0.00002705819],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912916,0.0005482971,0.001430563,0.0000578954,0.00001091405,0.00001400104,0.00604745,0.00004361568,0.0005557866],"genre_scores_gemma":[0.9707798,0.0004594084,0.005139108,0.0001396249,0.00001480573,0.00005956563,0.02293844,0.00004469725,0.0004245647],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003441348,"threshold_uncertainty_score":0.006842613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01443595076000368,"score_gpt":0.2492621963865171,"score_spread":0.2348262456265134,"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."}}