{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001046954,0.0001391797,0.0001954656,0.00009019835,0.00001567041,0.000005739771,0.0001135831,0.00008752883,0.00003080655],"category_scores_gemma":[0.00001986247,0.0001121339,0.00001384188,0.0001343403,0.0001163983,0.000001657611,0.00008772226,0.00008990132,6.644831e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001163224,"about_ca_system_score_gemma":0.0000846782,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001416943,"about_ca_topic_score_gemma":0.001227599,"domain_scores_codex":[0.9991633,0.00003289098,0.000196232,0.0002811692,0.0001055954,0.0002208285],"domain_scores_gemma":[0.9996623,0.00001159698,0.00005321567,0.0002008344,0.00001157159,0.00006052553],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002196287,0.0001699582,0.9228544,0.00008759073,0.00003681768,0.00004806075,0.0004775071,0.000577762,0.07204455,0.0003602263,0.00006948522,0.003053978],"study_design_scores_gemma":[0.002460612,0.0004737237,0.9937311,0.00007226328,0.00001217164,0.00006494983,0.0003888061,0.00009970746,0.0008529521,0.0004295575,0.001260476,0.0001536432],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944711,0.003994904,0.0001023104,0.0005438855,0.00007159993,0.0002194627,0.000009572981,0.000002697562,0.0005844962],"genre_scores_gemma":[0.9974239,0.001350534,0.0006860615,0.0002694239,0.00002504133,0.000007002551,0.00005453313,0.00002077303,0.0001627511],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0711916,"threshold_uncertainty_score":0.4572686,"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."}}