{"id":"W2321150781","doi":"10.2174/157340412799079192","title":"Identification and Characterization of BRCA1 and BRCA2 Founder Mutations","year":2012,"lang":"en","type":"article","venue":"Current Women s Health Reviews","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Founder effect; Genetics; Mutation; Population; Haplotype; Biology; Germline mutation; Identity by descent; Allele; Gene; Demography","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008468783,0.0003827492,0.0007380687,0.003887618,0.0001639406,0.0005394205,0.0005787332,0.0005156703,0.0009968375],"category_scores_gemma":[0.001610899,0.0001778854,0.0004788894,0.002032435,0.0002483577,0.0003669994,0.0002344253,0.0003605199,0.0002805793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004653907,"about_ca_system_score_gemma":0.0003868537,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002077414,"about_ca_topic_score_gemma":0.001997721,"domain_scores_codex":[0.9995584,0.00005089416,0.00007607095,0.0001311578,0.0001342863,0.00004918471],"domain_scores_gemma":[0.9993027,0.000256077,0.000216909,0.00003000336,0.0001552218,0.00003907224],"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":[0.0005786297,0.0001094961,0.1226898,0.01223649,0.0006172171,0.008635156,0.0006437646,0.001100089,0.07110066,0.001315042,0.0128181,0.7681557],"study_design_scores_gemma":[0.00009984212,0.0004989774,0.4369237,0.003709015,0.001573022,0.08869033,0.0004059192,0.0009816003,0.04305648,0.001782602,0.4222057,0.00007300865],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.102616,0.8887995,0.00191563,0.0006654105,0.0001493039,0.00006827514,0.001552694,0.00006322747,0.004169946],"genre_scores_gemma":[0.3643424,0.6117809,0.007594591,0.001240458,0.0004714721,0.0001484224,0.008296037,0.00005980833,0.006065947],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003887618,"threshold_uncertainty_score":0.004478753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04955623003997789,"score_gpt":0.3704772762971764,"score_spread":0.3209210462571985,"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."}}