{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000245649,0.0002241935,0.0003445594,0.001363349,0.0008795895,0.0003661597,0.0003030939,0.0004360774,0.005119841],"category_scores_gemma":[0.00131732,0.0001966477,0.0001867831,0.00120007,0.0004297137,0.0002647192,0.0002765507,0.0002727406,0.0004990905],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002608621,"about_ca_system_score_gemma":0.0002394217,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01296783,"about_ca_topic_score_gemma":0.0112976,"domain_scores_codex":[0.9997736,0.00005525603,0.00002138635,0.00005958776,0.00002419908,0.00006611792],"domain_scores_gemma":[0.9993868,0.0001808824,0.0001598295,0.00003841601,0.0000738145,0.0001601223],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001901807,0.0001406765,0.981698,0.00001169839,0.00009630471,0.00137306,0.001533287,0.0001590516,0.007358965,0.0002856698,0.0002336522,0.005207775],"study_design_scores_gemma":[0.0000360874,0.0001999026,0.9974776,0.000004571536,0.00003650101,0.0009132028,0.000566794,0.0002359511,0.0001695993,0.0001399363,0.0002120432,0.000007801083],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999663,0.00003564788,0.00002019976,0.00001172583,0.000001065308,0.000001239202,0.0000682369,0.000001158913,0.0001977168],"genre_scores_gemma":[0.9995982,0.00002476466,0.00002897638,0.000009864614,0.000003155787,0.000002583901,0.0001123979,0.000002270515,0.0002179988],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01296783,"threshold_uncertainty_score":0.02578467,"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."}}