{"id":"W4387378177","doi":"10.1016/j.ajhg.2023.09.004","title":"Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction","year":2023,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Child Health and Human Development; National Institute of Allergy and Infectious Diseases; National Cancer Institute; National Institutes of Health; Vetenskapsrådet; York University; Simons Foundation Autism Research Initiative; University of Iowa; Aldeyra Therapeutics; National Human Genome Research Institute; New York University; Simons Foundation","keywords":"Biology; Chromatin; Genetics; Exome sequencing; Chromodomain; Neuroscience; Gene; Mutation","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":[0.0003256886,0.0001306885,0.0002231449,0.00007193461,0.00009922081,0.0000136159,0.0001858518,0.00005080947,0.000002929642],"category_scores_gemma":[0.00003893335,0.0000895612,0.00007611224,0.0002395322,0.0001750954,0.000004369854,0.0000930791,0.0001338861,4.987721e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002819202,"about_ca_system_score_gemma":0.00002378008,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003065818,"about_ca_topic_score_gemma":0.00005921617,"domain_scores_codex":[0.999029,0.0001545724,0.0003177112,0.0001266043,0.0001866179,0.0001855388],"domain_scores_gemma":[0.9991831,0.00002995303,0.0004597704,0.0002310255,0.00005960316,0.0000365652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005640095,0.00002675037,0.003362219,0.0000103717,0.00006325128,0.000001702522,0.0004101101,0.008014017,0.9864734,0.000001452909,0.0001165198,0.001463768],"study_design_scores_gemma":[0.000513047,0.001489914,0.2594655,0.00008608208,0.00006838496,0.00007648491,0.0005181457,0.0007671476,0.736675,0.0001497772,0.00006622389,0.0001242881],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997174,0.0009874782,0.001349381,0.0001797858,0.0001679746,0.0001210354,0.000006071479,0.000007575126,0.000006647327],"genre_scores_gemma":[0.9984901,0.001020375,0.0002794566,0.0000584747,0.0001005923,0.000003925589,0.00001033163,0.00002130555,0.00001541669],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2561032,"threshold_uncertainty_score":0.36522,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01180728399286157,"score_gpt":0.2854013669779162,"score_spread":0.2735940829850546,"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."}}