{"id":"W4383874637","doi":"10.1101/2023.07.03.23290133","title":"Genetic and molecular analyses of candidate germline <i>BRIP1/FANCJ</i> variants implicated in breast and ovarian cancer","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean; Centre Hospitalier Universitaire de Sherbrooke; Université de Montréal; Ontario Institute for Cancer Research; Princess Margaret Cancer Centre; Université de Sherbrooke; University of Toronto; McGill Genome Centre; Montreal Neurological Institute and Hospital; University Health Network; Jewish General Hospital; Université Laval; Centre Hospitalier de l’Université de Montréal; McGill University; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Fondation du cancer du sein du Québec; Compute Canada; Canadian Institutes of Health Research; McGill University Health Centre; Genome Canada; McGill University; American Diabetes Association","keywords":"Breast cancer; Cancer; Ovarian cancer; Population; Genetics; Biology; Oncology; 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":[0.0004088627,0.0003384586,0.0001901678,0.001449882,0.0003747699,0.000285359,0.0002566474,0.0003116781,0.001458693],"category_scores_gemma":[0.001298163,0.0001228983,0.0002277667,0.0009180903,0.0002697154,0.00007666582,0.0002173918,0.0001886886,0.0001453662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002181759,"about_ca_system_score_gemma":0.0001448515,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002832454,"about_ca_topic_score_gemma":0.001936235,"domain_scores_codex":[0.9997436,0.0000492285,0.00003002822,0.00006871824,0.00006774325,0.00004069407],"domain_scores_gemma":[0.9993692,0.0002288085,0.0002455538,0.00002073743,0.00005838336,0.00007741209],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001869132,0.0001537298,0.773131,0.0001444813,0.0002579734,0.01444492,0.0004614398,0.001044742,0.1965729,0.0003318654,0.0004303913,0.01115733],"study_design_scores_gemma":[0.00007061897,0.0004122824,0.9530123,0.00002639599,0.0002189821,0.01764774,0.0002494165,0.001784817,0.02473816,0.0001758872,0.001643168,0.00002037109],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990242,0.0001414071,0.0002083311,0.00001660704,0.000002676657,0.00001130908,0.0002963309,0.000009588,0.0002896268],"genre_scores_gemma":[0.9992868,0.00005643106,0.0003022045,0.00001653936,0.000004316607,0.000004530371,0.0002405131,0.000003419593,0.00008527128],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002832454,"threshold_uncertainty_score":0.005631983,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02380565128578048,"score_gpt":0.3250028269719314,"score_spread":0.301197175686151,"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."}}