{"id":"W2404103982","doi":"10.26719/2013.19.3.255","title":"Screening for BRCA1 large genomic rearrangements in female Egyptian hereditary breast cancer patients","year":2013,"lang":"en","type":"article","venue":"Eastern Mediterranean Health Journal","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Agence Universitaire de la Francophonie","keywords":"Breast cancer; Medicine; Germline mutation; Cancer; Germline; Population; Internal medicine; Oncology; Mutation; Genetics; Biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005406322,0.0002168261,0.0002443157,0.0001476577,0.0002369124,0.00006948024,0.0003099925,0.0001241167,0.0003546721],"category_scores_gemma":[0.00002816474,0.0002125957,0.00009048783,0.00009665445,0.000033806,0.00003031671,0.00008838177,0.0002733262,0.0000243228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002636464,"about_ca_system_score_gemma":0.0003818408,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002302362,"about_ca_topic_score_gemma":0.0005326131,"domain_scores_codex":[0.9978866,0.0001327808,0.0006131952,0.0003713015,0.0002868367,0.0007092927],"domain_scores_gemma":[0.9988939,0.00001113176,0.0003199326,0.0002362951,0.0002055501,0.0003332043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005783826,0.0004678855,0.5652007,0.0003290747,0.0002565415,0.00001371861,0.00318548,0.0004809728,0.00472841,0.000001305008,0.09504995,0.3297075],"study_design_scores_gemma":[0.0136084,0.001296805,0.9335385,0.0006566867,0.00003551722,0.0003062742,0.002213228,0.003625434,0.0004311817,0.00007927879,0.04340374,0.0008049186],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872039,0.002152706,0.003769872,0.003357199,0.00220839,0.0009124796,0.0003399546,0.000009716454,0.0000457778],"genre_scores_gemma":[0.989959,0.0002763832,0.002482299,0.003071523,0.003360042,0.0002077816,0.0002725656,0.00006712894,0.000303279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3683378,"threshold_uncertainty_score":0.8669401,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03362947274607541,"score_gpt":0.3202654238682226,"score_spread":0.2866359511221472,"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."}}