{"id":"W3185350990","doi":"10.1161/circgen.121.003410","title":"Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot","year":2021,"lang":"en","type":"article","venue":"Circulation Genomic and Precision Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; Structural Genomics Consortium; Toronto General Hospital; University of Toronto; University Health Network; Ted Rogers Centre for Heart Research; Mount Sinai Hospital; Hospital for Sick Children","funders":"National Institute of Mental Health; British Heart Foundation","keywords":"Tetralogy of Fallot; Biology; Proband; Exome sequencing; Genome-wide association study; Candidate gene; Genetics; Locus (genetics); JAG1; Heart disease; Single-nucleotide polymorphism; Bioinformatics; Gene; Medicine; Notch signaling pathway; Internal medicine; Phenotype; Mutation; Genotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000663169,0.00009061165,0.0001943088,0.00004692013,0.00008082514,0.000007535742,0.0000511038,0.0001438491,0.0001347725],"category_scores_gemma":[0.0008383949,0.00008115091,0.0000723977,0.00009563282,0.00009106567,0.000005363464,0.00006778302,0.0001109329,0.000004536008],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001376876,"about_ca_system_score_gemma":0.0001276786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000013554,"about_ca_topic_score_gemma":0.00003285659,"domain_scores_codex":[0.9988082,0.0001383525,0.0004728322,0.0002917515,0.0001429902,0.0001458734],"domain_scores_gemma":[0.9991198,0.0001892996,0.0001043673,0.0002158336,0.0002804465,0.00009026204],"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":[0.0008594163,0.00006601452,0.212189,0.000102813,0.0001352861,0.000002715207,0.00007224445,0.001048496,0.3979882,0.0001222956,0.001729174,0.3856843],"study_design_scores_gemma":[0.00194648,0.0006668051,0.9706423,0.00006658977,0.0000485191,0.00005772447,0.00005800567,0.005337077,0.001248096,0.001487524,0.01832299,0.0001179072],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9158466,0.001493105,0.0815735,0.00005489127,0.0003330107,0.0004232604,0.00001478725,0.000004226753,0.0002566161],"genre_scores_gemma":[0.9955998,0.0004088597,0.00259175,0.00007428874,0.0007548471,0.00002860724,0.0001577488,0.00001226141,0.000371814],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7584532,"threshold_uncertainty_score":0.3309238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04379301128058601,"score_gpt":0.3443698171642403,"score_spread":0.3005768058836543,"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."}}