{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006428436,0.0001861271,0.0002726041,0.001951444,0.0003349779,0.0005053867,0.0001988768,0.0001822397,0.001759656],"category_scores_gemma":[0.001653124,0.00009958424,0.0002605764,0.00211092,0.0004498288,0.0003630138,0.0003457798,0.0001686926,0.0002062421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001648927,"about_ca_system_score_gemma":0.0002333698,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00221772,"about_ca_topic_score_gemma":0.002802151,"domain_scores_codex":[0.9995899,0.00007975932,0.0000861199,0.000105491,0.0000637552,0.00007498763],"domain_scores_gemma":[0.9992126,0.0001892976,0.0004095185,0.00004658474,0.00006888746,0.0000730953],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002784019,0.00002948984,0.93772,0.0006211704,0.0002236738,0.005659957,0.001840997,0.0001768125,0.009225072,0.0005202044,0.001388477,0.04231569],"study_design_scores_gemma":[0.00001100715,0.0000714127,0.9802034,0.0003518541,0.0001159562,0.009892629,0.001944653,0.00004997658,0.0009773488,0.0002965159,0.006073476,0.000011851],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886719,0.006758604,0.0001918029,0.0001791184,0.00001158078,0.0000152118,0.001046944,0.00001034209,0.003114639],"genre_scores_gemma":[0.9950445,0.003632001,0.0003130799,0.0001103318,0.0000123982,0.000008919447,0.0006860588,0.000004287547,0.000188346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00221772,"threshold_uncertainty_score":0.005886614,"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."}}