{"id":"W4388654287","doi":"10.1172/jci171235","title":"Spliceosome malfunction causes neurodevelopmental disorders with overlapping features","year":2023,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Centre Hospitalier Universitaire Sainte-Justine; London Health Sciences Centre; McMaster University; McMaster Children's Hospital; SickKids Foundation; University of Toronto; University Health Network; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; NIH Office of the Director; National Human Genome Research Institute; National Institutes of Health; Novo Nordisk Fonden; Eagles Autism Foundation; Common Fund; Wellcome Trust; University of Rochester; Pennsylvania Department of Health","keywords":"Medicine; Spliceosome; Genetics; Bioinformatics; Biology; RNA splicing; 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":[0.0001766447,0.0007674646,0.0002976921,0.0007551926,0.0002452645,0.0002057395,0.0001825677,0.0003064896,0.001117412],"category_scores_gemma":[0.00038629,0.0001154168,0.0001854113,0.0005657643,0.0004661928,0.0001220438,0.00038063,0.0001761371,0.0001883005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001839259,"about_ca_system_score_gemma":0.0001601025,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005223819,"about_ca_topic_score_gemma":0.0005197381,"domain_scores_codex":[0.9997864,0.00003062441,0.00003998647,0.0000797353,0.00003737054,0.00002574404],"domain_scores_gemma":[0.9998165,0.00003266816,0.00009455946,0.00001518857,0.00001344386,0.00002769981],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001677804,0.0001830036,0.342094,0.0002910658,0.0002999743,0.04753357,0.0003326386,0.0004302999,0.5566889,0.001132218,0.0007572772,0.04857925],"study_design_scores_gemma":[0.00005605775,0.0007124008,0.7340598,0.0000595247,0.0003556683,0.1539023,0.0003471641,0.001328117,0.1042606,0.0008745806,0.004023773,0.00002007676],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996191,0.0017243,0.0009964659,0.00004219449,0.000008030734,0.00001339759,0.0002490856,0.00003914421,0.0007362356],"genre_scores_gemma":[0.9984455,0.0006430215,0.0004519216,0.00002406391,0.000007695176,0.000005266263,0.0002443868,0.000006149914,0.000171983],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001117412,"threshold_uncertainty_score":0.003738105,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04362714930798609,"score_gpt":0.3486714607019399,"score_spread":0.3050443113939538,"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."}}