{"id":"W2949471222","doi":"10.1002/humu.23842","title":"The spectrum of <i>BRCA1</i> and <i>BRCA2</i> pathogenic sequence variants in Middle Eastern, North African, and South European countries","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"European Social Fund; National Cancer Institute; Medical Research Council; Ministero dello Sviluppo Economico; National Health and Medical Research Council; Dr. Ralph and Marian Falk Medical Research Trust; Cancer Research UK; Dipartimenti di Eccellenza; National Institutes of Health; Ovarian Cancer Research Fund; University of Chicago; National Breast Cancer Foundation; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Jonsson Comprehensive Cancer Center; Canadian Institutes of Health Research; Associazione Italiana per la Ricerca sul Cancro; European Commission; Breast Cancer Research Foundation","keywords":"Biology; Genotyping; Demography; Population; Inbreeding; Genetics; Consanguinity; Founder effect; Allele; Haplotype; Gene; Genotype","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":[0.0001442036,0.0000728013,0.00006761283,0.00002026051,0.00004378796,0.00002275958,0.0000587948,0.00002282846,0.000002387675],"category_scores_gemma":[0.00001046751,0.00006219038,0.00001332954,0.00003832675,0.00005328018,0.000003698014,0.00004204773,0.00003784198,0.000003341634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004178175,"about_ca_system_score_gemma":0.00001113638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000131183,"about_ca_topic_score_gemma":0.0001712237,"domain_scores_codex":[0.9995014,0.00003589192,0.0001340363,0.0001610258,0.00006033736,0.0001072872],"domain_scores_gemma":[0.9997638,0.000008848094,0.000052299,0.0001332888,0.00001874952,0.00002301738],"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":[0.00009509448,0.0000294224,0.2456509,0.0001868829,0.00005294494,0.00001568088,0.004940883,0.001317005,0.744331,0.000754199,0.00002641873,0.002599606],"study_design_scores_gemma":[0.001240983,0.0003788114,0.9616782,0.00005427565,0.00002446313,0.00003145659,0.001069051,0.0009015082,0.03266158,0.000210407,0.001470897,0.0002783551],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981088,0.0008211249,0.0003004673,0.00002490136,0.00003586175,0.0001197872,0.00001024154,0.000003826349,0.0005749762],"genre_scores_gemma":[0.9996201,0.00009663388,0.00004867818,0.00002825298,0.00003040219,0.00000263436,0.00002282162,0.00001046745,0.000140011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7160273,"threshold_uncertainty_score":0.253605,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01060933661767893,"score_gpt":0.2396964232879168,"score_spread":0.2290870866702379,"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."}}