{"id":"W4317378996","doi":"10.1158/1055-9965.epi-22-1073","title":"Inference on the Genetic Architecture of Breast Cancer Risk","year":2023,"lang":"en","type":"article","venue":"Cancer Epidemiology Biomarkers & Prevention","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Cancer Institute; Alberta Machine Intelligence Institute; American Lebanese Syrian Associated Charities","keywords":"Zygosity; Concordance; Breast cancer; Genetic architecture; Population; Genetics; Cancer; Biology; Monozygotic twin; Genome-wide association study; Germline; Twin study; Disease; Germline mutation; Demography; Medicine; Mutation; Internal medicine; Single-nucleotide polymorphism; Gene; Heritability; Genotype; Quantitative trait locus","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":[0.0078024,0.0004994099,0.0008277979,0.001883612,0.0004468187,0.001141366,0.001142464,0.0009373767,0.002685366],"category_scores_gemma":[0.05235834,0.0005552925,0.001070115,0.001284429,0.001730888,0.0009413949,0.001432569,0.001155672,0.000348782],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005036797,"about_ca_system_score_gemma":0.000597464,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004955391,"about_ca_topic_score_gemma":0.002700791,"domain_scores_codex":[0.9946419,0.003242958,0.0002247183,0.001309033,0.0003904715,0.0001909003],"domain_scores_gemma":[0.9542676,0.03974023,0.002088493,0.002732971,0.0006683226,0.0005023555],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003984306,0.00006241466,0.9362291,0.0001449915,0.001185356,0.0007163677,0.0002487501,0.02359419,0.001150133,0.009429408,0.0005480336,0.0262928],"study_design_scores_gemma":[0.0001800776,0.0002348026,0.6719013,0.0001683137,0.001148517,0.002753323,0.000330988,0.1879376,0.00125901,0.1324764,0.001539272,0.00007020839],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9033223,0.001418246,0.08879258,0.001531978,0.00005124053,0.00007562049,0.0008582706,0.0001836577,0.003766002],"genre_scores_gemma":[0.9925041,0.0003329575,0.006312236,0.0001620533,0.00007210099,0.00002352487,0.0003796121,0.00001410087,0.0001993495],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0078024,"threshold_uncertainty_score":0.04126352,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03472759848575745,"score_gpt":0.3567041227315841,"score_spread":0.3219765242458267,"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."}}