{"id":"W3215814807","doi":"10.1186/s13073-021-00998-5","title":"A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene","year":2021,"lang":"en","type":"article","venue":"Genome Medicine","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Institute for Cancer Research; Princess Margaret Cancer Centre; University of Toronto; University Health Network; Jewish General Hospital; McGill Genome Centre; Université de Montréal; Université Laval; Centre Hospitalier de l’Université de Montréal; McGill University; McGill University Health Centre","funders":"National Human Genome Research Institute; National Cancer Institute; Cancer Research UK; National Institutes of Health; Université de Montréal; Canadian Institutes of Health Research; European Commission","keywords":"Ovarian cancer; Cancer; Missense mutation; Genetics; Population; Gene; PALB2; Exome sequencing; Candidate gene; Biology; CHEK2; Medicine; Internal medicine; Oncology; Mutation; Germline mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001726066,0.0005335954,0.0002923654,0.001241856,0.001533075,0.0002847052,0.0003122399,0.0004637188,0.003770366],"category_scores_gemma":[0.0007991616,0.0001210458,0.0003210323,0.001567536,0.0005671249,0.00007572641,0.000236672,0.0002592586,0.0001630486],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00179027,"about_ca_system_score_gemma":0.002051682,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.469187,"about_ca_topic_score_gemma":0.5390055,"domain_scores_codex":[0.999842,0.000008220141,0.000007883702,0.00004192035,0.00005354453,0.00004641062],"domain_scores_gemma":[0.9997349,0.00006506955,0.00007035361,0.00001399088,0.00006004765,0.00005562834],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001044779,0.00008730331,0.7396558,0.0002902466,0.0002529085,0.07346581,0.002219847,0.001262018,0.122413,0.00166601,0.004528763,0.0531134],"study_design_scores_gemma":[0.00004272633,0.00009961321,0.9246447,0.00005407557,0.0001766511,0.05857014,0.0006511286,0.0009485251,0.007134753,0.0003173836,0.007325186,0.0000350094],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957377,0.0007140306,0.0004502379,0.000197472,0.00001302029,0.00001351883,0.0007478879,0.00003083292,0.002095157],"genre_scores_gemma":[0.998539,0.0002103941,0.0003755179,0.00006363203,0.000007899931,0.000003209761,0.0002475294,0.000006412794,0.000546483],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.530813,"threshold_uncertainty_score":0.932912,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01092014742555423,"score_gpt":0.2641237158001667,"score_spread":0.2532035683746125,"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."}}