{"id":"W2002284887","doi":"10.1159/000053364","title":"Haplotype Analysis of &lt;i&gt;BRCA2&lt;/i&gt; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002278931,0.0002261679,0.0002603932,0.001561362,0.001029177,0.0002957986,0.0001813524,0.0002706659,0.001384588],"category_scores_gemma":[0.0009716275,0.0001577691,0.0001640155,0.001321113,0.0003767048,0.00006951806,0.0002108304,0.000130735,0.0001423296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001366463,"about_ca_system_score_gemma":0.0007762685,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.3400881,"about_ca_topic_score_gemma":0.3744275,"domain_scores_codex":[0.9997448,0.00003412006,0.0000156599,0.00005171316,0.00005210558,0.0001016941],"domain_scores_gemma":[0.999719,0.00004344392,0.00006599462,0.00001880605,0.00007875761,0.00007396413],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009390677,0.00004582946,0.9476935,0.00003196832,0.0001337566,0.004490545,0.003217919,0.0002930858,0.02668566,0.0002714422,0.0005627643,0.01563439],"study_design_scores_gemma":[0.00001797684,0.00007200008,0.9952172,0.000008568607,0.00004155762,0.002000912,0.0005169701,0.0001642141,0.0009715215,0.00002307984,0.0009572917,0.00000879662],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993923,0.0001009614,0.00004606448,0.00001576152,0.000001220304,0.000004559353,0.0001542258,0.000001947371,0.0002831223],"genre_scores_gemma":[0.9993357,0.00008601093,0.00009167821,0.00001418684,0.000001916333,0.000005638021,0.0002260623,0.000002518674,0.0002361858],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6599119,"threshold_uncertainty_score":0.6762171,"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."}}