{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001008922,0.00008106826,0.0001699339,0.0000839578,0.00006988359,0.00003296413,0.0001044528,0.00009288426,0.000005013502],"category_scores_gemma":[0.001386885,0.00005963533,0.00009699572,0.0001962424,0.0001067703,0.00001849746,0.00003864769,0.0002389936,0.000008463111],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008591061,"about_ca_system_score_gemma":0.0001955332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000092473,"about_ca_topic_score_gemma":0.0000442087,"domain_scores_codex":[0.998668,0.000103614,0.0006611192,0.00014387,0.0002712928,0.0001521289],"domain_scores_gemma":[0.9989549,0.00007090135,0.0005952657,0.00009906039,0.0001227929,0.0001570823],"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":[0.0005843698,0.00005165683,0.4575373,0.00003474437,0.0001511405,0.00002298548,0.00005084255,0.0009931333,0.5147346,0.00007943742,0.01386618,0.01189357],"study_design_scores_gemma":[0.0008435699,0.0009448179,0.9823748,0.00005992689,0.00001607505,0.0000410435,0.0001161005,0.0001668859,0.01045158,0.0002830898,0.004596863,0.0001051808],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980361,0.00005395947,0.0002586964,0.001192271,0.000254556,0.0000705481,0.000001199675,0.000008888104,0.0001238024],"genre_scores_gemma":[0.9967561,0.0004739291,0.0007698092,0.0004489501,0.0004838782,0.000002412234,0.0000276812,0.00001377961,0.001023461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5248376,"threshold_uncertainty_score":0.2431858,"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."}}