{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006255329,0.0001179948,0.0001256449,0.00002522645,0.0003130049,0.00003351756,0.0001974885,0.0001654348,0.00001579563],"category_scores_gemma":[0.0001481884,0.0001011911,0.0001565378,0.00007583165,0.0002282551,0.000009087074,0.00005563216,0.00005778915,0.000005148388],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000312675,"about_ca_system_score_gemma":0.0002361273,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001038151,"about_ca_topic_score_gemma":0.0001587431,"domain_scores_codex":[0.9987445,0.00008435528,0.000495226,0.0003493241,0.0001532888,0.0001733328],"domain_scores_gemma":[0.9988475,0.00004701876,0.0002692062,0.0004222635,0.0003706387,0.00004334283],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006917734,0.0001983707,0.0004282243,0.0000518136,0.0002665865,0.000001026394,0.001575347,0.0009267912,0.934199,0.005113428,0.03359352,0.02295407],"study_design_scores_gemma":[0.002452302,0.001487933,0.002955473,0.00001996067,0.0002026571,0.00001546341,0.0001540649,0.4512852,0.5144079,0.007935897,0.01866044,0.0004225886],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6832554,0.0002289411,0.3148736,0.0003671702,0.0002920273,0.0005684368,0.0001499186,0.00001495387,0.0002495128],"genre_scores_gemma":[0.9917536,0.00006287334,0.005701314,0.0007613926,0.0005768607,0.0001310871,0.0002028918,0.00002660889,0.0007833811],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4503585,"threshold_uncertainty_score":0.4126453,"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."}}