{"id":"W4387874656","doi":"10.1186/s13073-023-01246-8","title":"Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions","year":2023,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Montreal Heart Institute; Agricultural Research Institute of Ontario; University Health Network; Toronto General Hospital; Hamilton Health Sciences; University of Toronto; McMaster University; Université de Montréal; Population Health Research Institute","funders":"National Human Genome Research Institute; NIHR Imperial Biomedical Research Centre; National Heart, Lung, and Blood Institute; Hartstichting; Canada Research Chairs; British Heart Foundation; Wellcome Trust; Sir Jules Thorn Charitable Trust; Medical Research Council; American Heart Association","keywords":"Mechanism (biology); Genetics; Disease; Allele; Computational biology; Inheritance (genetic algorithm); Gene; Human genetics; Biology; 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":[0.009602135,0.000609682,0.0009299753,0.006437398,0.0005719941,0.002424274,0.001177284,0.00152724,0.001413973],"category_scores_gemma":[0.04641937,0.0002929505,0.001529614,0.004388064,0.0008115654,0.001876555,0.002581605,0.001491689,0.0003954885],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007607964,"about_ca_system_score_gemma":0.001767277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005828798,"about_ca_topic_score_gemma":0.01209772,"domain_scores_codex":[0.9945741,0.001933586,0.0009726393,0.001405707,0.00086662,0.0002473546],"domain_scores_gemma":[0.9382813,0.04545565,0.006006127,0.006871417,0.002249353,0.001136195],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0009501725,0.0002593448,0.8583874,0.001409438,0.0009378143,0.001217613,0.001018699,0.02222371,0.00744446,0.00526014,0.01204786,0.08884328],"study_design_scores_gemma":[0.0004456101,0.0007473441,0.6410074,0.001580665,0.001103578,0.006494286,0.002066524,0.18457,0.009729405,0.1028683,0.04916436,0.000222593],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.6734074,0.004954855,0.1444708,0.003421592,0.000114683,0.0004713961,0.1680114,0.00168955,0.003458317],"genre_scores_gemma":[0.7748819,0.0005674113,0.09161934,0.0006852232,0.00009336381,0.0002413148,0.1314767,0.0001460157,0.0002886608],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.009602135,"threshold_uncertainty_score":0.05078155,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04533186775206233,"score_gpt":0.2935318347320783,"score_spread":0.248199966980016,"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."}}