{"id":"W4414824544","doi":"10.1016/j.euroneuro.2025.08.250","title":"M54. RARE VARIANTS IN SMALL NUCLEAR RNA GENES REVEAL A SPLICING-RELATED GENETIC MECHANISM IN AUTISM SPECTRUM DISORDER","year":2025,"lang":"en","type":"article","venue":"European Neuropsychopharmacology","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Waterloo; Hospital for Sick Children","funders":"","keywords":"Small nuclear RNA; RNA splicing; Gene; Intron; RNA; snRNP; Exon; Genome; Human genetics; Autism spectrum disorder","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":[0.0004445901,0.001713904,0.0008023603,0.001448484,0.00100417,0.00072159,0.001078309,0.003155249,0.01026223],"category_scores_gemma":[0.002635005,0.0003348282,0.001128935,0.0008993162,0.001006425,0.0003481419,0.0007158673,0.000986097,0.001867321],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003138467,"about_ca_system_score_gemma":0.0002713566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001667141,"about_ca_topic_score_gemma":0.001515952,"domain_scores_codex":[0.999073,0.0002041053,0.000174214,0.0002636324,0.0001763982,0.000108581],"domain_scores_gemma":[0.9981354,0.0007567976,0.0006563641,0.0001310886,0.000105467,0.0002148763],"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":[0.005422751,0.0004658759,0.1476396,0.00026556,0.0009603108,0.2065453,0.001335403,0.001826316,0.601498,0.004664855,0.003027182,0.02634886],"study_design_scores_gemma":[0.001240309,0.002437481,0.5133537,0.000539304,0.002022238,0.357482,0.001424158,0.006635552,0.09031011,0.009399908,0.01486662,0.0002886934],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9919779,0.0007721416,0.002448977,0.0007597692,0.0002558323,0.00004683801,0.000971188,0.00010892,0.002658443],"genre_scores_gemma":[0.9973375,0.00008094488,0.001149261,0.0002639702,0.0001096565,0.00001797593,0.0002300217,0.00006181834,0.0007488656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01026223,"threshold_uncertainty_score":0.03433055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008302240808664471,"score_gpt":0.2619943936680521,"score_spread":0.2536921528593876,"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."}}