{"id":"W2788825237","doi":"10.1002/humu.23411","title":"The <i>BRCA2</i> c.68-7T &gt; A variant is not pathogenic: A model for clinical calibration of spliceogenicity","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto","funders":"Cancer Council Queensland; Cancer Research UK; National Health and Medical Research Council; Medical Research Council; Instituto de Salud Carlos III; Rigshospitalet; Associazione Italiana per la Ricerca sul Cancro; Wellcome Trust; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; National Cancer Institute; KWF Kankerbestrijding; National Institute for Health and Care Research; Transcan","keywords":"Biology; Odds ratio; Genetics; Allele; Exon; Breast cancer; Cancer; Gene; Internal medicine; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.01668604,0.001184508,0.001246966,0.001962045,0.0005957812,0.002424311,0.003004079,0.001770778,0.01035757],"category_scores_gemma":[0.03442412,0.0004270114,0.001331155,0.00152063,0.002572738,0.001662237,0.001209873,0.001953576,0.002075604],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006392968,"about_ca_system_score_gemma":0.0006811201,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001522617,"about_ca_topic_score_gemma":0.0009651529,"domain_scores_codex":[0.9908301,0.005375002,0.0003116846,0.002315961,0.0009482128,0.000219062],"domain_scores_gemma":[0.9766366,0.01550666,0.003329191,0.00341771,0.0005903601,0.0005194761],"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":[0.009632362,0.0007641588,0.7108321,0.0009710529,0.004548249,0.004393787,0.001106466,0.03097923,0.03147437,0.1035213,0.009210866,0.09256605],"study_design_scores_gemma":[0.0010703,0.004286502,0.2354093,0.0004575353,0.002973963,0.02147321,0.001104955,0.3172958,0.0105015,0.3841415,0.02102669,0.0002587403],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6748789,0.008480035,0.2793247,0.007557578,0.0008202785,0.0006247948,0.003462409,0.0008809515,0.02397042],"genre_scores_gemma":[0.9862015,0.0004847799,0.009743214,0.0007618829,0.0001087905,0.0001737804,0.0009048295,0.0001100277,0.001511312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01668604,"threshold_uncertainty_score":0.08824527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05834672261418362,"score_gpt":0.3663648485543958,"score_spread":0.3080181259402122,"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."}}