{"id":"W2206281701","doi":"10.1136/jmedgenet-2015-103452","title":"Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Cancer Institute; National Health and Medical Research Council; Medical Research Council; National Breast Cancer Foundation; National Institutes of Health; Cancer Australia; Government of Canada; AstraZeneca; Myriad Genetics; Canadian Institutes of Health Research; Genome Canada; Génome Québec","keywords":"CHEK2; PALB2; Breast cancer; Genetics; Cancer; Biology; Massive parallel sequencing; MLH1; Oncology; Germline mutation; Gene; Mutation; Medicine; DNA sequencing; DNA mismatch repair; Colorectal cancer","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006888256,0.0003319751,0.0002936152,0.0006480017,0.0004813766,0.0003040371,0.0002984671,0.0003011706,0.0009959793],"category_scores_gemma":[0.001462634,0.0002432776,0.0002757101,0.0005358875,0.0002412017,0.00008312361,0.000359075,0.0002487724,0.0001888689],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002776972,"about_ca_system_score_gemma":0.0002585787,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002402685,"about_ca_topic_score_gemma":0.003225609,"domain_scores_codex":[0.9995428,0.0001028241,0.00002642116,0.0002025539,0.00008223111,0.00004312242],"domain_scores_gemma":[0.9994512,0.0001991458,0.0001383641,0.0001020059,0.00004238719,0.00006692397],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008815472,0.0001543321,0.8850833,0.00007321995,0.0002683585,0.002583748,0.0005848001,0.001357456,0.08788659,0.0001294811,0.0005216759,0.02047543],"study_design_scores_gemma":[0.00008275481,0.0003865198,0.9691809,0.0000153387,0.0002219668,0.009103903,0.0001595984,0.004396943,0.0143119,0.0002103902,0.001912914,0.00001687652],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981799,0.00009055403,0.001327923,0.00001484344,0.000001669108,0.00001449132,0.0002349738,0.0000179637,0.000117785],"genre_scores_gemma":[0.996452,0.00008466638,0.002472169,0.00003095572,0.000006841935,0.00002821829,0.0007358703,0.00001222885,0.0001769704],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002402685,"threshold_uncertainty_score":0.004777372,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03292546145577158,"score_gpt":0.3140324882240925,"score_spread":0.2811070267683209,"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."}}