{"id":"W4403384574","doi":"10.1186/s13073-024-01383-8","title":"A validated heart-specific model for splice-disrupting variants in childhood heart disease","year":2024,"lang":"en","type":"article","venue":"Genome Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; University Health Network; London Health Sciences Centre; McMaster Children's Hospital; Children's Hospital of Eastern Ontario; Ted Rogers Centre for Heart Research; Kingston Health Sciences Centre; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Alliance de recherche numérique du Canada; Wellcome Trust; Hospital for Sick Children; European Bioinformatics Institute; National Heart Foundation of Australia","keywords":"splice; Proband; RNA splicing; Alternative splicing; Genetics; Exon; Medicine; Gene; Exon skipping; Biology; Computational biology; Bioinformatics; Mutation; 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":[0.002857679,0.001110585,0.00107121,0.001128355,0.0004188456,0.0007076892,0.001128452,0.001248395,0.001519967],"category_scores_gemma":[0.004612608,0.0003427733,0.0009642981,0.0004018984,0.0004772009,0.0004185311,0.0005563161,0.001196209,0.0005112852],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001109065,"about_ca_system_score_gemma":0.001070382,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01323171,"about_ca_topic_score_gemma":0.009436794,"domain_scores_codex":[0.9994844,0.0001757609,0.0000390336,0.0001701247,0.00005057913,0.00007999466],"domain_scores_gemma":[0.9969106,0.002175954,0.000241554,0.00009529157,0.0004586017,0.0001179868],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0003750487,0.0002301976,0.05082971,0.00004950185,0.0002414384,0.0002851119,0.00006006438,0.9127963,0.001388965,0.0005269708,0.002001842,0.03121474],"study_design_scores_gemma":[0.00001101111,0.00003057557,0.0021451,0.000006339144,0.00001954103,0.00002718382,0.000005255155,0.9972063,0.0001773421,0.0002968325,0.00007003199,0.000004443849],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8319107,0.0008667508,0.1601608,0.0009832205,0.0001274527,0.0002019468,0.002346749,0.001488713,0.001913745],"genre_scores_gemma":[0.9804426,0.0001080516,0.0155389,0.0001986751,0.00003267706,0.0001561973,0.00232439,0.00004122429,0.001157302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01323171,"threshold_uncertainty_score":0.02630943,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03088595332644717,"score_gpt":0.3276038221570244,"score_spread":0.2967178688305772,"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."}}