{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002872971,0.0003625132,0.0003531922,0.0001455856,0.0003190578,0.00004340709,0.0004234449,0.00008709974,0.0000360307],"category_scores_gemma":[0.0005572406,0.0003220081,0.0001147676,0.0001790974,0.0001709663,0.00001331755,0.0003946289,0.00009296151,0.000008742663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000358044,"about_ca_system_score_gemma":0.0003256211,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001834283,"about_ca_topic_score_gemma":0.00001758133,"domain_scores_codex":[0.9976929,0.0000879659,0.0003906452,0.001015916,0.000306566,0.0005059844],"domain_scores_gemma":[0.9972011,0.00004404848,0.0001386897,0.001282535,0.0001443355,0.001189219],"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":[0.003329807,0.0004720523,0.005150591,0.001640887,0.001420311,0.001613768,0.0003180236,0.0007537242,0.8940078,0.01609282,0.07408741,0.001112816],"study_design_scores_gemma":[0.01529223,0.002229085,0.5520509,0.0007145307,0.005202459,0.0000435244,0.001385616,0.008598059,0.002428118,0.1336666,0.2740736,0.004315245],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9641625,0.0071941,0.0009610089,0.004478408,0.001098824,0.001679247,0.02024054,0.0001082207,0.00007711101],"genre_scores_gemma":[0.9596153,0.003061935,0.0002305793,0.001622198,0.001319914,0.0002313277,0.0334103,0.0000852678,0.0004231704],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8915797,"threshold_uncertainty_score":0.9999232,"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."}}