{"id":"W3121115799","doi":"10.1038/s41380-020-00985-z","title":"Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability","year":2021,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; McGill University; Douglas Mental Health University Institute; Hospital for Sick Children; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; HEC Montréal; Jewish General Hospital; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Medical Research Council; National Science Foundation; Canadian Institutes of Health Research; Compute Canada; National Institute of Mental Health; Heart and Stroke Foundation of Canada; Hospital for Sick Children; Wellcome Trust; Institut de Valorisation des Données; Fondation Brain Canada; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Autism Speaks","keywords":"Haploinsufficiency; Copy-number variation; Genetics; Gene; Autism; Cognition; Biology; Genome; Human genetics; Gene dosage; Psychology; Phenotype; Developmental psychology; Gene expression; Neuroscience","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002395142,0.0002590341,0.0004326024,0.0001999879,0.00006966835,0.00003890727,0.0002226003,0.0001776612,0.0002726625],"category_scores_gemma":[0.00007486869,0.0002789106,0.0003479308,0.0006024232,0.00009544782,0.000008288968,0.0001557752,0.00009980201,0.000006876162],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002218359,"about_ca_system_score_gemma":0.0002202101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007147319,"about_ca_topic_score_gemma":0.0001867739,"domain_scores_codex":[0.9982486,0.0001444393,0.0004709895,0.0005988167,0.0002035579,0.0003335911],"domain_scores_gemma":[0.9989633,0.00002755009,0.0001884826,0.0005717038,0.0001624428,0.00008649655],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004133759,0.0002912364,0.6912054,0.00005703245,0.001588723,0.00002099951,0.0001497348,0.004374637,0.3020279,0.00008288664,0.00002845351,0.0001316098],"study_design_scores_gemma":[0.0006621136,0.00008098437,0.6222552,0.00001881296,0.000702569,0.00001097907,0.0004659955,0.0001702379,0.3745115,0.0005189449,0.0002774362,0.0003252109],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881292,0.006545135,0.003605888,0.0001631376,0.0001580051,0.0001829302,0.0004643391,0.0000116281,0.0007397185],"genre_scores_gemma":[0.9918236,0.0001564589,0.005743654,0.0002616408,0.00004237956,0.00003822042,0.001703321,0.0000273083,0.0002034899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07248361,"threshold_uncertainty_score":0.9999663,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00873095806737328,"score_gpt":0.2351768284231308,"score_spread":0.2264458703557575,"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."}}