{"id":"W4385811250","doi":"10.21203/rs.3.rs-3221704/v1","title":"Autistic traits in myotonic dystrophy type 1 due to MBNL inhibition and RNA mis-splicing","year":2023,"lang":"en","type":"preprint","venue":"Research Square","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Azrieli Foundation; Canadian Institutes of Health Research; University of Florida; National Institutes of Health; National Institute of Mental Health; Hospital for Sick Children; University of California, San Francisco; University of Toronto; Government of Ontario; National Institute of Allergy and Infectious Diseases; Children’s Hospital of Wisconsin Research Institute; Muscular Dystrophy Association; Fondation Brain Canada","keywords":"Myotonic dystrophy; Autism; RNA splicing; Trinucleotide repeat expansion; Alternative splicing; Biology; Genetics; Muscular dystrophy; Gene; Neuroscience; Psychology; Exon; RNA; Psychiatry","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":[0.000285568,0.002204298,0.0009097575,0.00161807,0.0009382138,0.000492223,0.0007122634,0.001652514,0.008294477],"category_scores_gemma":[0.001059374,0.000447469,0.0007961463,0.0006907113,0.001580644,0.0002956821,0.001190164,0.001166635,0.0009186486],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005328354,"about_ca_system_score_gemma":0.0004729229,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00193633,"about_ca_topic_score_gemma":0.001790627,"domain_scores_codex":[0.999516,0.0001022953,0.00007485099,0.0001438156,0.00009619934,0.00006693519],"domain_scores_gemma":[0.9990044,0.0003425434,0.0003951579,0.00006234046,0.00003010083,0.0001653934],"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":[0.004788063,0.0003514692,0.01857493,0.0003663764,0.0004104532,0.3859105,0.0006933123,0.001326083,0.567188,0.002847088,0.002383542,0.01516018],"study_design_scores_gemma":[0.0009110686,0.001280866,0.2432742,0.000193954,0.001177027,0.6253929,0.0005625337,0.007233112,0.1074554,0.00404583,0.008312753,0.0001604455],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877943,0.0009563019,0.00346117,0.0008252825,0.0001695293,0.0000580284,0.0007290915,0.0003150732,0.005691205],"genre_scores_gemma":[0.9942075,0.0003213083,0.001587452,0.0001985009,0.0001217464,0.00004671048,0.0003709718,0.0001068171,0.003039021],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008294477,"threshold_uncertainty_score":0.02774775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1363136281722745,"score_gpt":0.402171773992089,"score_spread":0.2658581458198145,"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."}}