{"id":"W4362600604","doi":"10.1101/2023.04.03.23287612","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":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"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; National Institutes of Health; Vlaamse regering; Canada Research Chairs; Imperial College London; National Institute for Health and Care Research; National Heart and Lung Institute; British Heart Foundation; Wellcome Trust; Medical Research Council; American Heart Association","keywords":"Inheritance (genetic algorithm); Disease; Mechanism (biology); Allele; Genetics; Gene; Computational biology; Biology; Medicine; 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":[0.01110086,0.0006277054,0.000888537,0.005202175,0.0004951346,0.002438543,0.001042623,0.001432376,0.001475141],"category_scores_gemma":[0.0453604,0.0003226102,0.001433267,0.003557123,0.0008806868,0.001593005,0.002503127,0.001440376,0.0004583706],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006974553,"about_ca_system_score_gemma":0.001753281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003996334,"about_ca_topic_score_gemma":0.007658272,"domain_scores_codex":[0.9948325,0.002013496,0.0007663839,0.001351295,0.0007951773,0.0002411836],"domain_scores_gemma":[0.9461355,0.03985025,0.004951528,0.006438099,0.001684586,0.0009400983],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001436951,0.0002619067,0.8142257,0.001631026,0.0012118,0.001426202,0.001186181,0.02993296,0.01030877,0.008112814,0.01744815,0.1128173],"study_design_scores_gemma":[0.0005835707,0.0006580306,0.5507422,0.001427645,0.001213372,0.005926759,0.001689705,0.2107461,0.01155007,0.1643328,0.05091412,0.000215614],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.6290265,0.005299247,0.2061513,0.004193668,0.0001388049,0.0003914033,0.1485714,0.00279551,0.003432066],"genre_scores_gemma":[0.7721666,0.000655067,0.1100739,0.0007414293,0.0001198124,0.0002117443,0.115462,0.000223503,0.0003458215],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.01110086,"threshold_uncertainty_score":0.05870765,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05985176978287911,"score_gpt":0.3001189545320245,"score_spread":0.2402671847491454,"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."}}