{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006316151,0.0000859254,0.000165658,0.00004252432,0.00007931284,0.00001257901,0.00004545353,0.00003542888,0.00001399732],"category_scores_gemma":[0.00005058099,0.00008245734,0.00002000622,0.00009749436,0.00006004729,0.00001437817,0.00003391898,0.00004284678,0.000006301198],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006829979,"about_ca_system_score_gemma":0.0000890744,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001443814,"about_ca_topic_score_gemma":0.000001764775,"domain_scores_codex":[0.9990768,0.0001129029,0.0003907695,0.0001748508,0.00006418977,0.0001804238],"domain_scores_gemma":[0.9993414,0.000006569433,0.0002958564,0.0001916758,0.00005144767,0.0001130124],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001419216,0.0001517966,0.01195783,0.001769254,0.00002902892,1.5288e-8,0.004092188,6.56637e-7,0.2058797,0.0006993277,0.001043636,0.7743623],"study_design_scores_gemma":[0.0003318819,0.00008452209,0.1017782,0.0001039978,0.00001768862,0.000008555563,0.0001413219,0.00002550189,0.004687489,0.00009970504,0.8925529,0.0001683231],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.905489,0.08846214,0.004641406,0.0003233526,0.0004291274,0.0005933482,0.00003084671,0.000005209271,0.0000255364],"genre_scores_gemma":[0.9274006,0.07127192,0.0002716359,0.0002204087,0.0002079783,0.0002289505,0.0002985995,0.00001249844,0.00008737938],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8915092,"threshold_uncertainty_score":0.3362513,"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."}}