{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001762009,0.000195584,0.0006383997,0.00006151683,0.00006777756,0.00001744511,0.0002539364,0.0005579483,0.00002443101],"category_scores_gemma":[0.001557356,0.0001889642,0.0004209037,0.0007125157,0.0003433554,0.000004609736,0.0001300335,0.0002675293,0.00002123348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002904937,"about_ca_system_score_gemma":0.0002358166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000619585,"about_ca_topic_score_gemma":0.00001113649,"domain_scores_codex":[0.9971527,0.000233351,0.001441858,0.0007268171,0.0002168692,0.0002283942],"domain_scores_gemma":[0.9976141,0.0005727498,0.000631427,0.0007928511,0.000226591,0.0001622443],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002139442,0.0003403983,0.526123,0.004502961,0.002170659,0.000009127941,0.0001158829,0.0002327855,0.4633694,0.000006735354,0.001716382,0.001198706],"study_design_scores_gemma":[0.003715047,0.0003783881,0.4914199,0.0008401961,0.004430142,0.00001314173,0.00116337,0.03296516,0.4634864,0.00008876144,0.0005380045,0.0009614383],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967142,0.0003034989,0.001930261,0.0002415744,0.0001438094,0.0002489525,0.00008402322,0.00003131659,0.0003023529],"genre_scores_gemma":[0.9969323,0.0002649887,0.001255853,0.0002323737,0.0002654323,0.00006629417,0.0004485582,0.00002723182,0.0005069608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03470312,"threshold_uncertainty_score":0.7705736,"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."}}