{"id":"W4386855256","doi":"10.1093/clinchem/hvad125","title":"Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 <i>CHEK2</i> Splice-Site Variants","year":2023,"lang":"en","type":"article","venue":"Clinical Chemistry","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Junta de Castilla y León; Consejería de Educación, Junta de Castilla y León; Universidad de Valladolid; European Commission; Instituto de Salud Carlos III; Canadian Institutes of Health Research; Genome Canada; Comunidad de Madrid; Government of Canada; Ministerio de Ciencia e Innovación; Wellcome Trust","keywords":"Minigene; RNA splicing; Exon; Genetics; Biology; Exon skipping; Intron; Splice site mutation; CHEK2; Exonic splicing enhancer; Alternative splicing; Untranslated region; Gene; Molecular biology; Messenger RNA; Germline mutation; Mutation; RNA","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005296138,0.000460634,0.0002877232,0.001166112,0.0002727934,0.0004092521,0.000316312,0.0004099629,0.001257655],"category_scores_gemma":[0.0009877373,0.0001433119,0.0004706709,0.0005527294,0.0003657983,0.0001423827,0.0003680966,0.0003404928,0.0004932412],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002207118,"about_ca_system_score_gemma":0.0002046591,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003581772,"about_ca_topic_score_gemma":0.0005042564,"domain_scores_codex":[0.9996058,0.00003757691,0.00004586831,0.0001761669,0.00009112118,0.00004336814],"domain_scores_gemma":[0.9993951,0.0001607367,0.0001816594,0.00007934462,0.0001143972,0.00006869619],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00138068,0.00007747742,0.09277149,0.0001724432,0.00009810722,0.001410444,0.0002574394,0.0004722953,0.8795701,0.0002110015,0.0003119744,0.0232665],"study_design_scores_gemma":[0.0001020262,0.001428417,0.3830195,0.00007395396,0.0006771266,0.02068757,0.0003319299,0.01093656,0.5736316,0.0006132346,0.008433827,0.00006425287],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914331,0.0005334656,0.006016667,0.00003999056,0.00001400236,0.00007789583,0.00127057,0.0001234448,0.0004908594],"genre_scores_gemma":[0.979974,0.0004210562,0.01364871,0.00006778028,0.00001358818,0.00008669312,0.00522633,0.00008519358,0.000476674],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001257655,"threshold_uncertainty_score":0.004207313,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04900368406730889,"score_gpt":0.3908745040051602,"score_spread":0.3418708199378513,"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."}}