{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002629466,0.0005497527,0.0002346897,0.001203593,0.0003824911,0.0004868442,0.0004669268,0.0006915996,0.003284047],"category_scores_gemma":[0.001010772,0.0002524037,0.0002783015,0.0004378744,0.0006471928,0.0003345866,0.0005514843,0.000431433,0.00041866],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002968789,"about_ca_system_score_gemma":0.0003663879,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001539222,"about_ca_topic_score_gemma":0.003296171,"domain_scores_codex":[0.9998079,0.00002328651,0.00002697657,0.00003644441,0.00006955468,0.00003585976],"domain_scores_gemma":[0.9992102,0.0002038322,0.0003043664,0.00007682924,0.00005561834,0.0001490529],"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":[0.0007509842,0.00007425624,0.105437,0.0001259433,0.0002051266,0.02105768,0.000369391,0.0008250647,0.8537076,0.005633126,0.0005139777,0.01129994],"study_design_scores_gemma":[0.0001218869,0.0002860587,0.6310541,0.00008876402,0.0002935923,0.08121392,0.0007744577,0.003029591,0.2662399,0.009565884,0.007262404,0.00006944699],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892771,0.001234923,0.003717939,0.0004322888,0.00006340079,0.00001276213,0.0007250524,0.000137419,0.004399035],"genre_scores_gemma":[0.9979529,0.0002358634,0.001121184,0.00004422741,0.00001659667,0.000003580001,0.0002230373,0.00001406489,0.0003883798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003284047,"threshold_uncertainty_score":0.01098621,"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."}}