{"id":"W2045534977","doi":"10.1002/humu.9027","title":"A BRCA1 mutation in Native North American families","year":2002,"lang":"en","type":"article","venue":"Human Mutation","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Western University; Sunnybrook Health Science Centre; University of Toronto; Women's College Hospital","funders":"Canadian Institutes of Health Research","keywords":"Biology; Genetics; Mutation; Founder effect; Native american; Germline; Germline mutation; Genealogy; Ethnic group; Gene; Allele; Haplotype; Anthropology; History; Sociology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007084675,0.0001150338,0.0000977258,0.0001408909,0.00008823245,0.00002360718,0.00009254441,0.00004146655,0.00004561472],"category_scores_gemma":[0.00006007077,0.0001313725,0.00003687906,0.0003210486,0.000123359,0.0000100208,0.00002286643,0.00007398124,0.00003660535],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001092599,"about_ca_system_score_gemma":0.00002709504,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001195638,"about_ca_topic_score_gemma":0.004932828,"domain_scores_codex":[0.9991421,0.00006929038,0.0002065085,0.0002896607,0.0001338512,0.0001586521],"domain_scores_gemma":[0.9995731,0.00001237765,0.0001178042,0.0001713665,0.00009495052,0.00003044552],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001968734,0.001020195,0.1931245,0.0001446406,0.0003653246,0.0001574497,0.03336273,0.04562716,0.1814165,0.001501268,0.01682584,0.5262575],"study_design_scores_gemma":[0.001778781,0.0007143011,0.9392858,0.00001851242,0.00003008435,0.00003465721,0.00284633,0.003769527,0.04546132,0.0005021612,0.004978312,0.0005802547],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959055,0.0001528576,0.0008927319,0.0001100854,0.00006568239,0.000191132,0.00001204807,0.00001941773,0.002650613],"genre_scores_gemma":[0.9981346,0.00004796341,0.0007033534,0.0002182413,0.0001191274,0.00009069102,0.000303246,0.00002074703,0.0003620164],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7461613,"threshold_uncertainty_score":0.5357217,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01790777817488593,"score_gpt":0.2793648928323758,"score_spread":0.2614571146574898,"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."}}