{"id":"W2002284887","doi":"10.1159/000053364","title":"Haplotype Analysis of <i>BRCA2</i> 8765delAG Mutation Carriers in French Canadian and Yemenite Jewish Hereditary Breast Cancer Families","year":2001,"lang":"en","type":"article","venue":"Human Heredity","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; Centre Hospitalier de l’Université de Montréal; McGill University; Université de Montréal; Women's College Hospital; Hôpital Notre-Dame; McGill University Health Centre","funders":"","keywords":"Haplotype; Genetics; Allele; Microsatellite; Mutation; Biology; Identity by descent; BRCA2 Protein; Germline mutation; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002068607,0.0002085216,0.000292545,0.0004194245,0.0001497578,0.00002429203,0.0001879877,0.0002247567,0.0003448281],"category_scores_gemma":[0.00003223497,0.0002381268,0.0000891976,0.0006927093,0.0002339213,0.00001753986,0.00005985644,0.0001159458,0.000002133008],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002821257,"about_ca_system_score_gemma":0.0004633443,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.05477065,"about_ca_topic_score_gemma":0.8666618,"domain_scores_codex":[0.9985307,0.00008267023,0.0003598567,0.000475889,0.0002066119,0.0003442838],"domain_scores_gemma":[0.9990619,0.00001520798,0.0001293308,0.0003894682,0.0002218303,0.0001821979],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001408699,0.0002151139,0.7282358,0.0001548602,0.002753186,0.0001636278,0.002891595,0.0143461,0.1923992,0.0002293439,0.03052598,0.02794432],"study_design_scores_gemma":[0.0007711248,0.0001095751,0.9774639,0.00002340821,0.000456473,0.00002629139,0.0002470219,0.00100792,0.001550407,0.000188737,0.0177701,0.0003850639],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937866,0.003196998,0.00004201887,0.0001997403,0.0002882377,0.000181875,0.0007958974,0.00001315025,0.001495427],"genre_scores_gemma":[0.9979168,0.0003882108,0.0001179709,0.0001229354,0.0003425973,0.00005728351,0.0006694852,0.00002719957,0.000357545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8118912,"threshold_uncertainty_score":0.971053,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01193926442502903,"score_gpt":0.2575181607904912,"score_spread":0.2455788963654621,"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."}}