{"id":"W4405567062","doi":"10.1016/j.ajhg.2024.11.003","title":"Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus","year":2024,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; University of Toronto; Holland Bloorview Kids Rehabilitation Hospital; Montreal Neurological Institute and Hospital; Hospital for Sick Children","funders":"McLaughlin Centre, University of Toronto; National Institutes of Health; Ontario Brain Institute; Hospital for Sick Children; University of Toronto; Autism Speaks; Ministero dell’Istruzione, dell’Università e della Ricerca; David Geffen School of Medicine, University of California, Los Angeles; Sick Kids Foundation; Simons Foundation Autism Research Initiative; National Institute of Neurological Disorders and Stroke; UCLA Health System","keywords":"Locus (genetics); Genetics; Autism spectrum disorder; Autism; Biology; Medicine; Psychiatry; Gene","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":[0.0002885547,0.00141736,0.0005112923,0.00162403,0.0006739323,0.000520121,0.0004374612,0.00135784,0.005126355],"category_scores_gemma":[0.00155605,0.0003193707,0.0003909315,0.0009304769,0.0005499363,0.0002438075,0.0005082188,0.0006600574,0.000570559],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003129543,"about_ca_system_score_gemma":0.0001675436,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001444461,"about_ca_topic_score_gemma":0.001445489,"domain_scores_codex":[0.9996101,0.00009495424,0.00005855973,0.000103859,0.00008593451,0.00004671104],"domain_scores_gemma":[0.9991197,0.0003185981,0.000337153,0.00005010625,0.00005127726,0.0001231304],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00389154,0.0005194019,0.4778717,0.0002631361,0.001096293,0.1706819,0.001010224,0.002958769,0.2997105,0.003530503,0.002673262,0.03579279],"study_design_scores_gemma":[0.0002448678,0.0003263619,0.8620439,0.0001906216,0.0007377119,0.1087377,0.0004547491,0.002973442,0.01785041,0.002793466,0.003578783,0.00006796123],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959695,0.0006514044,0.0008829835,0.0003476296,0.00005842535,0.00001799954,0.0002710249,0.00006041078,0.001740609],"genre_scores_gemma":[0.9987776,0.0001504423,0.0003548682,0.00004982068,0.00004675991,0.000005846217,0.00009832215,0.00001226772,0.0005040815],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005126355,"threshold_uncertainty_score":0.01714939,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005511872668275361,"score_gpt":0.2309963315952326,"score_spread":0.2254844589269573,"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."}}