{"id":"W2982830161","doi":"10.1038/s41436-019-0693-9","title":"De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Queen's University; University of Toronto; Centre for Addiction and Mental Health","funders":"National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Center for Mendelian Genomics, University of Washington; National Natural Science Foundation of China; University of Washington; Howard Hughes Medical Institute","keywords":"Autism spectrum disorder; Neurodevelopmental disorder; Exome sequencing; Phenotype; Genetics; Intellectual disability; Autism; Copy-number variation; Zinc finger; Biology; Neuroimaging; Gene; Medicine; Neuroscience; Transcription factor; Genome; 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":[0.0002508125,0.001560947,0.0005311081,0.001105452,0.0009887683,0.0005113966,0.0009216302,0.001613291,0.003169406],"category_scores_gemma":[0.001377105,0.0002611629,0.000474056,0.0007109318,0.0007940612,0.0003552533,0.0007972197,0.0007287703,0.000680616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004256125,"about_ca_system_score_gemma":0.0004159003,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003199894,"about_ca_topic_score_gemma":0.003904022,"domain_scores_codex":[0.9995695,0.00004354402,0.00005113701,0.0001338026,0.0001532861,0.00004877648],"domain_scores_gemma":[0.9995531,0.0001306025,0.0001341843,0.00002389433,0.00005503897,0.0001030979],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001512491,0.0003224387,0.1438765,0.0001301286,0.0003194055,0.6331642,0.0007890277,0.001293915,0.1954697,0.004228598,0.003050028,0.01584351],"study_design_scores_gemma":[0.0002078668,0.0003721234,0.2543705,0.00008157863,0.0003157702,0.7031667,0.0005325062,0.005961398,0.02343616,0.004312615,0.007161134,0.00008162096],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9888915,0.0007743347,0.003524649,0.0007647767,0.0001576249,0.00006883982,0.001009259,0.0001319648,0.004677205],"genre_scores_gemma":[0.9972774,0.0001142208,0.00129036,0.0001337853,0.00006031948,0.00000757124,0.000229343,0.00002722434,0.0008598309],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003199894,"threshold_uncertainty_score":0.01060277,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004670649709452268,"score_gpt":0.2258831570097812,"score_spread":0.221212507300329,"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."}}