{"id":"W1974173647","doi":"10.1002/humu.21181","title":"Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Viral gastroenteritis research and epidemiology","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Medical Research Council; National Cancer Institute; National Institutes of Health; National Breast Cancer Foundation; Ludwig Institute for Cancer Research; Canadian Institutes of Health Research; Cancer Institute NSW; Cancer Research Institute; Cancer Council NSW; National Health and Medical Research Council; Mayo Clinic","keywords":"Biology; Genetics; RNA splicing; Pathogenicity; In vitro; Alternative splicing; Molecular biology; Computational biology; Exon; Gene; Microbiology; 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":[0.003879798,0.000971441,0.0008640666,0.003363912,0.0006728974,0.0005410778,0.0004312978,0.0009332711,0.004067966],"category_scores_gemma":[0.01114019,0.000257116,0.001275308,0.0009655943,0.0009783412,0.0003862095,0.0008433529,0.0006270264,0.0005120082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000388655,"about_ca_system_score_gemma":0.0004081592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001684907,"about_ca_topic_score_gemma":0.002708082,"domain_scores_codex":[0.9961367,0.001385883,0.0003637404,0.0007354015,0.001090645,0.0002876875],"domain_scores_gemma":[0.9887727,0.007662471,0.002011894,0.0005299834,0.0005149631,0.0005078964],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001696015,0.0001335089,0.913097,0.0001293078,0.0006634273,0.005166274,0.0004371244,0.002041863,0.04891257,0.001027876,0.0003231059,0.02637193],"study_design_scores_gemma":[0.0001252712,0.001384115,0.8715612,0.0001122431,0.0008740744,0.0361508,0.0006750524,0.04235371,0.03452064,0.008275558,0.003816246,0.000151124],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9792891,0.0005816857,0.01665674,0.0001542167,0.00002334126,0.00004921296,0.0004557786,0.0001286631,0.002661301],"genre_scores_gemma":[0.9926947,0.00009587991,0.006579507,0.00004295894,0.00001539883,0.00001533616,0.0002148586,0.00002630338,0.0003149996],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004067966,"threshold_uncertainty_score":0.0205186,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1057771794313831,"score_gpt":0.426956362089031,"score_spread":0.3211791826576479,"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."}}