{"id":"W4224213206","doi":"10.1001/jamaoncol.2022.0373","title":"Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases","year":2022,"lang":"en","type":"article","venue":"JAMA Oncology","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"U.S. National Library of Medicine; National Institute of Allergy and Infectious Diseases; National Human Genome Research Institute; Medical Research Council","keywords":"Medicine; Phenome; Biobank; Cohort; Cancer; Genome-wide association study; Medical record; Disease; Cohort study; Internal medicine; Bioinformatics; Genetics; Genotype; Single-nucleotide polymorphism; Phenotype; Gene; Biology","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":[0.0001752926,0.00007812821,0.0001454627,0.00005369256,0.00005694875,0.000003428161,0.0001410876,0.00009832295,0.0001913471],"category_scores_gemma":[0.00007074386,0.00007959922,0.00003958933,0.000161399,0.00004059963,0.000003817066,0.0001318771,0.0001033865,0.000001075676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00052457,"about_ca_system_score_gemma":0.0007190634,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002468778,"about_ca_topic_score_gemma":0.002479057,"domain_scores_codex":[0.9990841,0.0002012653,0.0001761115,0.0002331603,0.0001400838,0.000165282],"domain_scores_gemma":[0.9995066,0.00005029491,0.0001674049,0.000169224,0.00007717295,0.00002932675],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007316091,0.0004294374,0.7431123,0.00002427598,0.0002285926,0.00004785798,0.0002620211,0.01633078,0.1837439,0.00001849682,0.01816549,0.0369052],"study_design_scores_gemma":[0.004786958,0.001435493,0.7346376,0.000009816576,0.0001167017,0.00004436028,0.000890168,0.0006974243,0.0182679,0.0001291512,0.2386784,0.0003060283],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994225,0.002922413,0.00006547321,0.001442335,0.0004054626,0.0001851563,0.0004587171,0.000006158751,0.0002893099],"genre_scores_gemma":[0.9975197,0.0002303306,0.0005460724,0.0004683846,0.0002271557,0.0004130653,0.0001863005,0.00001617671,0.00039281],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2205129,"threshold_uncertainty_score":0.3245962,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00853701586686538,"score_gpt":0.269700235275418,"score_spread":0.2611632194085526,"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."}}