{"id":"W3037027340","doi":"10.1002/mgg3.1374","title":"Disrupted minor intron splicing is prevalent in Mendelian disorders","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Intron; Mendelian inheritance; RNA splicing; Genetics; Biology; Minor allele frequency; Medicine; Computational biology; Bioinformatics; Gene; Genotype; Single-nucleotide polymorphism; RNA","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":[0.0004580904,0.001006586,0.0006192886,0.00214917,0.0005302924,0.000568325,0.0005935673,0.0007897591,0.006053776],"category_scores_gemma":[0.002457282,0.0002257022,0.0003677557,0.00236376,0.0007207665,0.0002597789,0.0006688913,0.0004680266,0.0007267662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000235621,"about_ca_system_score_gemma":0.000365585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001464139,"about_ca_topic_score_gemma":0.001292398,"domain_scores_codex":[0.9990439,0.000117771,0.0001219633,0.000378189,0.0002676746,0.00007050506],"domain_scores_gemma":[0.9986412,0.0003862605,0.0007020654,0.00008890182,0.0000834668,0.00009813402],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003168993,0.0001799162,0.533026,0.001486204,0.0013558,0.1354957,0.001135138,0.001408649,0.1843727,0.007884757,0.00959391,0.1208922],"study_design_scores_gemma":[0.0001872305,0.0003223122,0.5402054,0.0004415151,0.001334751,0.3774744,0.0005055594,0.001721425,0.02839189,0.01110482,0.03820669,0.0001039507],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9616483,0.0121371,0.01205251,0.0008245875,0.0002146416,0.00007920386,0.005501821,0.0006936761,0.006848185],"genre_scores_gemma":[0.9881074,0.002491027,0.006235853,0.0001957891,0.0001125533,0.00002393266,0.001860795,0.00009753268,0.0008750313],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006053776,"threshold_uncertainty_score":0.02025187,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01332108612673874,"score_gpt":0.2754643475270215,"score_spread":0.2621432614002828,"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."}}