{"id":"W2024537937","doi":"10.1007/s10689-004-2101-z","title":"The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews","year":2005,"lang":"en","type":"article","venue":"Familial Cancer","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"Sunnybrook Health Science Centre","funders":"","keywords":"Haplotype; Genetics; Judaism; Mutation; Founder effect; Germline mutation; Population; Biology; Allele; Medicine; Gene; History","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002666764,0.0004299612,0.0003354249,0.002724378,0.00131338,0.0004309622,0.0006245646,0.0006793134,0.003545843],"category_scores_gemma":[0.001507416,0.0002548856,0.0003906515,0.001699099,0.000573065,0.0002091043,0.0002769119,0.000275459,0.0003020825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008207514,"about_ca_system_score_gemma":0.001069474,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.2338263,"about_ca_topic_score_gemma":0.2072229,"domain_scores_codex":[0.9997017,0.00003418894,0.00002755983,0.00005147033,0.00005976121,0.0001253895],"domain_scores_gemma":[0.999213,0.0001513119,0.0001958596,0.00003218101,0.0001604694,0.0002472719],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005649251,0.00006109733,0.9869516,0.00001702968,0.00005766452,0.003353336,0.00135603,0.0000558787,0.004194349,0.0000902539,0.00020982,0.003087969],"study_design_scores_gemma":[0.00001766793,0.0001611021,0.9928423,0.000005394404,0.00004126068,0.005098587,0.001108918,0.0001060593,0.0002959029,0.00003155509,0.0002800123,0.00001122818],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994774,0.00009177082,0.00002216795,0.00002185041,0.000002119812,0.000002599728,0.00009354122,0.000002591322,0.0002858959],"genre_scores_gemma":[0.9995763,0.00005409455,0.00004614803,0.00001578592,0.000004458687,0.000002147088,0.00007927004,0.000001868282,0.0002199719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7661737,"threshold_uncertainty_score":0.4649307,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008841869817882658,"score_gpt":0.2613655010930671,"score_spread":0.2525236312751844,"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."}}