{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003910013,0.0004461176,0.0003364472,0.00177572,0.0003978779,0.000568565,0.0003668257,0.0005127977,0.004380319],"category_scores_gemma":[0.002263764,0.0001794397,0.0006327526,0.001389574,0.0003346992,0.000338372,0.0004694473,0.0003853613,0.0003745433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003222736,"about_ca_system_score_gemma":0.0005370795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002788107,"about_ca_topic_score_gemma":0.00376533,"domain_scores_codex":[0.9996157,0.00008872832,0.00002898247,0.0001508416,0.00006820401,0.00004764005],"domain_scores_gemma":[0.9986467,0.0007439504,0.0003632767,0.00005153973,0.00008309619,0.0001114573],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006435678,0.00009500311,0.9543564,0.0001641757,0.0007326143,0.001972731,0.0001631328,0.005125084,0.02261763,0.001374842,0.001892023,0.01086267],"study_design_scores_gemma":[0.00005356358,0.0001080582,0.951303,0.00004329011,0.0007798187,0.004587033,0.0002368525,0.03123211,0.002822697,0.006213549,0.002595436,0.00002452551],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906092,0.0006464648,0.00411264,0.0005006818,0.00001498463,0.00001779932,0.002654012,0.00008957722,0.001354699],"genre_scores_gemma":[0.995544,0.000174576,0.002126919,0.0000847386,0.0000144402,0.00001446545,0.00180752,0.00001356504,0.0002197428],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004380319,"threshold_uncertainty_score":0.01465362,"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."}}