{"id":"W2074431333","doi":"10.1038/mp.2014.29","title":"De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability","year":2014,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":364,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Institute of General Medical Sciences; Science Foundation Ireland; National Institutes of Health; Michael Smith Health Research BC","keywords":"Exome sequencing; Autism; Genetics; MECP2; Haploinsufficiency; Epigenetics; Schizophrenia (object-oriented programming); Intellectual disability; Biology; Chromatin remodeling; Candidate gene; Neurodevelopmental disorder; Exome; Neuroscience; Gene; Mutation; Psychology; Psychiatry; Phenotype","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":[0.0001079002,0.0001745428,0.0001286974,0.00003884182,0.00007138345,0.00003775666,0.0000938181,0.0000799039,0.000006411123],"category_scores_gemma":[0.00003530149,0.0001730776,0.00002895682,0.00009569953,0.0001509028,0.000003038682,0.00009472666,0.00009916146,0.000001783002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001016973,"about_ca_system_score_gemma":0.00008929675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001964458,"about_ca_topic_score_gemma":0.0001325965,"domain_scores_codex":[0.9989475,0.00006207011,0.0002002622,0.000454139,0.00008700939,0.0002490253],"domain_scores_gemma":[0.9995815,0.000009549682,0.00004194168,0.0002493515,0.00001351888,0.0001041486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002656795,0.0002327197,0.1347613,0.0001241515,0.00005734191,0.000007796958,0.0003394042,0.001272356,0.8421161,0.0004985429,0.00007269625,0.02025197],"study_design_scores_gemma":[0.00295013,0.0008679839,0.973481,0.00005156245,0.00004762394,0.0003958662,0.0001933928,0.00362589,0.0123628,0.004519918,0.0008404552,0.0006633669],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892976,0.0004541276,0.009359014,0.0004047879,0.00003851853,0.0001946145,0.000006003535,0.00001052843,0.0002348609],"genre_scores_gemma":[0.9752969,0.00008999505,0.02403775,0.0004647136,0.000009623092,0.00002571883,0.00003296063,0.00002948444,0.00001282666],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8387197,"threshold_uncertainty_score":0.7057899,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004157587067446226,"score_gpt":0.2163717280910114,"score_spread":0.2122141410235652,"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."}}