{"id":"W2081451187","doi":"10.1089/gte.2006.10.104","title":"No Evidence of <i>BRCA1/2</i> Genomic Rearrangements in High-Risk French-Canadian Breast/Ovarian Cancer Families","year":2006,"lang":"en","type":"article","venue":"Genetic Testing","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; Hôtel-Dieu de Québec; Hôpital du Sacré-Cœur de Montréal; Cégep de Rimouski; Cégep de Jonquière; Université de Montréal; Université Laval; Hôpital du Saint-Sacrement; Centre Hospitalier Universitaire de Sherbrooke; Centre hospitalier universitaire de Québec","funders":"Canadian Institutes of Health Research; Canadian Breast Cancer Research Alliance; Canada Research Chairs; Breast Cancer Alliance","keywords":"Multiplex ligation-dependent probe amplification; Ovarian cancer; Biology; Genetics; Polymerase chain reaction; Breast cancer; Mutation; Southern blot; genomic DNA; Cancer; Gene; Oncology; Medicine; Exon","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002180716,0.0001847455,0.000173163,0.0001381624,0.00009171769,0.00002332578,0.0002981953,0.0001256214,0.00006386502],"category_scores_gemma":[0.0001898784,0.0002091167,0.00004415949,0.0003188169,0.000100825,0.000005892095,0.00009113589,0.0001091307,0.00001927868],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000189411,"about_ca_system_score_gemma":0.0007337511,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.4550805,"about_ca_topic_score_gemma":0.2425496,"domain_scores_codex":[0.9985101,0.00007617965,0.000400904,0.0004566065,0.0001522105,0.0004040342],"domain_scores_gemma":[0.99905,0.00004518119,0.0001899948,0.0004300041,0.0002020036,0.00008282695],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001235597,0.00002375988,0.636411,0.00004494835,0.00003115794,0.000005794177,0.00006160927,0.0151769,0.3151892,0.000004282606,0.001114983,0.03192404],"study_design_scores_gemma":[0.0005255194,0.000106118,0.9863046,0.0001560823,0.00003730053,0.00001617611,0.00002302591,0.0005453711,0.009962729,0.0001485856,0.001915436,0.0002590097],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930382,0.004185755,0.0002371164,0.00008494636,0.0002941076,0.0002462989,0.0001356925,0.00001172352,0.001766104],"genre_scores_gemma":[0.9795416,0.0002507863,0.01922474,0.0001100206,0.0004120045,0.00007628152,0.00002956417,0.00003377338,0.000321221],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3498937,"threshold_uncertainty_score":0.852753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01384273038536755,"score_gpt":0.2429686627078576,"score_spread":0.22912593232249,"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."}}