{"id":"W2304491401","doi":"10.1093/hmg/ddw094","title":"Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"National Cancer Institute; Instituto de Salud Carlos III; Cancer Council Victoria; Unicancer; Canadian Institutes of Health Research; NorthShore University HealthSystem; Associazione Italiana per la Ricerca sul Cancro; Bundesministerium für Bildung und Forschung; Deutsches Krebsforschungszentrum; Universiteit Leiden; National Health and Medical Research Council; Cancer Research UK; Breast Cancer Research Foundation; Institut National de la Santé et de la Recherche Médicale; National Institutes of Health; Ovarian Cancer Research Fund; McGill University","keywords":"Biology; Exon skipping; RNA splicing; Exon; Genetics; Alternative splicing; Gene; Allele; Molecular biology; RNA","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001705573,0.0007261871,0.0005440984,0.001324626,0.0004349644,0.0005021732,0.0003082096,0.0005481641,0.002040066],"category_scores_gemma":[0.001719692,0.0001706326,0.0009451503,0.001015807,0.0003085689,0.0001415967,0.0003012438,0.0005913562,0.0004740239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002956677,"about_ca_system_score_gemma":0.0003122863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003632487,"about_ca_topic_score_gemma":0.008865014,"domain_scores_codex":[0.9990981,0.0002292128,0.00005944248,0.0003727818,0.0001886818,0.00005182718],"domain_scores_gemma":[0.9983668,0.0008737693,0.0004229066,0.0001266632,0.0001025531,0.0001073457],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001790989,0.0003240503,0.4811492,0.0001730901,0.001229896,0.005052041,0.0002613231,0.01824941,0.4254578,0.00149662,0.0010735,0.0637421],"study_design_scores_gemma":[0.0001398049,0.0009408083,0.6480679,0.00009138139,0.001189965,0.008525387,0.0002102936,0.2337342,0.09468268,0.006513636,0.005786434,0.0001174925],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9786396,0.0002781741,0.01824622,0.0001239353,0.00002212876,0.00003873324,0.001175303,0.0002418419,0.001233929],"genre_scores_gemma":[0.9846659,0.00008193075,0.01340805,0.00006775548,0.00001486688,0.00001700948,0.001239554,0.00008157344,0.0004234019],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003632487,"threshold_uncertainty_score":0.00902003,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01285794807544249,"score_gpt":0.2836014068651284,"score_spread":0.2707434587896859,"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."}}