{"id":"W3159421809","doi":"10.1007/s00439-021-02283-2","title":"Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy","year":2021,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; Université de Montréal; Alberta Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine","funders":"Common Fund; Japan Society for the Promotion of Science; NIH Office of the Director; National Institutes of Health; National Center of Neurology and Psychiatry; National Human Genome Research Institute; Agence Nationale de la Recherche; Universität Duisburg-Essen; Ministry of Health, Labour and Welfare; Office of Strategic Coordination; Takeda Science Foundation; Fondation Maladies Rares; Japan Agency for Medical Research and Development","keywords":"Missense mutation; Biology; Intellectual disability; Chromodomain; Genetics; Frameshift mutation; Epilepsy; Exome sequencing; Global developmental delay; Haploinsufficiency; Gene; Mutation; Neuroscience","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":[0.0001653755,0.0008652227,0.0002650495,0.001173467,0.0006172395,0.0002465552,0.0002682756,0.0005347453,0.00171639],"category_scores_gemma":[0.0007078751,0.0001823351,0.0003448859,0.0005971094,0.0004177538,0.0001379305,0.000401713,0.0002389628,0.0002010647],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002778243,"about_ca_system_score_gemma":0.0001909684,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003005317,"about_ca_topic_score_gemma":0.004511816,"domain_scores_codex":[0.9997631,0.00002081277,0.00003611076,0.000086933,0.00004498375,0.00004808622],"domain_scores_gemma":[0.9997718,0.00007834152,0.00004124687,0.00001697058,0.00001463916,0.00007703858],"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":[0.001133499,0.0003507788,0.4317,0.0001106751,0.0002980818,0.4443139,0.001295414,0.0006219966,0.09723864,0.001189756,0.001088409,0.02065892],"study_design_scores_gemma":[0.0001073132,0.0005737772,0.6860464,0.00003499013,0.0002312299,0.2975367,0.0003587235,0.001234093,0.01166676,0.0003450041,0.001829622,0.00003537096],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987395,0.0001197057,0.0003814317,0.0000279848,0.000008976122,0.00001414837,0.0001674599,0.00001031164,0.000530578],"genre_scores_gemma":[0.9993678,0.00003728642,0.0001915687,0.00002499491,0.00001067941,0.000003017503,0.0001492353,0.000003141737,0.0002123332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003005317,"threshold_uncertainty_score":0.005975664,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01429869474634436,"score_gpt":0.2543578352247439,"score_spread":0.2400591404783996,"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."}}