{"id":"W2066739450","doi":"10.1007/s00439-011-1003-z","title":"Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers","year":2011,"lang":"en","type":"article","venue":"Human Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":false,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; Women's College Hospital; University of Toronto; Cancer Care Ontario; Mount Sinai Hospital","funders":"National Cancer Institute; National Health and Medical Research Council; National Institutes of Health; Institut Claudius Regaud; Institut Gustave-Roussy; Vrije Universiteit Amsterdam; Erasmus Medisch Centrum; Sahlgrenska Universitetssjukhuset; U.S. Department of Health and Human Services; Royal Marsden NHS Foundation Trust; Universitair Medisch Centrum Groningen; Lunds Universitet; Cancer Care Ontario; Akademiska Sjukhuset; Instituto de Salud Carlos III; Ohio State University; Radboud Universiteit; Medical Research Council; Leids Universitair Medisch Centrum; Universiteit Leiden; Institut National de la Santé et de la Recherche Médicale; National Breast Cancer Foundation; Breast Cancer Research Foundation; Radboud Universitair Medisch Centrum; Creighton University; National Institute for Health and Care Research; Uppsala Universitet; Centre National de la Recherche Scientifique; Cancer Australia; Cancer Research UK","keywords":"Haplotype; Biology; Genetics; Founder effect; Population; Linkage disequilibrium; Population bottleneck; Context (archaeology); Selective sweep; Locus (genetics); Allele frequency; BRCA2 Protein; Mutation; Germline mutation; Allele; Gene; Microsatellite; Demography","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006994914,0.0001420949,0.0001036785,0.00006803554,0.00007521766,0.00002138696,0.0001434997,0.0001724125,0.00008535695],"category_scores_gemma":[0.00002214968,0.0001584315,0.0000273323,0.00008918446,0.0001283662,0.000003487098,0.00008078181,0.00009670253,0.00000368776],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004284166,"about_ca_system_score_gemma":0.00008286074,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002812015,"about_ca_topic_score_gemma":0.0007672157,"domain_scores_codex":[0.9991301,0.00004018743,0.0001910278,0.0003400504,0.00009765766,0.0002010133],"domain_scores_gemma":[0.9994925,0.000003506259,0.00006363644,0.0003053878,0.00006827507,0.00006672501],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00008165145,0.00008740212,0.1347716,0.00007609845,0.0001613174,0.0000333094,0.005574243,0.0006570991,0.8249425,0.000724928,0.003285994,0.02960381],"study_design_scores_gemma":[0.001707193,0.0005760227,0.4887521,0.00002281338,0.00006511721,0.00007050214,0.0006030394,0.0001910937,0.4849342,0.007748345,0.01464349,0.0006861245],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953723,0.002763205,0.0001699467,0.00001932133,0.0001560824,0.0001622201,0.00002708352,0.00001197839,0.001317881],"genre_scores_gemma":[0.9961455,0.0001271215,0.003090211,0.0001740305,0.0001351989,0.0000132197,0.00009548557,0.00003365357,0.0001855944],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3539805,"threshold_uncertainty_score":0.6460648,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02041697017749038,"score_gpt":0.2634398684523875,"score_spread":0.2430228982748971,"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."}}