{"id":"W3014915618","doi":"10.1101/2020.04.03.024554","title":"Genome wide analysis of gene dosage in 24,092 individuals shows that 10,000 genes modulate cognitive ability","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Douglas Mental Health University Institute; McGill University; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; Université de Montréal; Hospital for Sick Children; Centre Hospitalier Universitaire Sainte-Justine; HEC Montréal; Baycrest Hospital; Holland Bloorview Kids Rehabilitation Hospital; Jewish General Hospital","funders":"Canadian Institutes of Health Research; Compute Canada; Hospital for Sick Children; Wellcome Trust; Institut de Valorisation des Données; Fondation Brain Canada; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Heart and Stroke Foundation of Canada; Autism Speaks; National Institutes of Health; National Science Foundation","keywords":"Haploinsufficiency; Copy-number variation; Gene; Genetics; Biology; Cognition; Genome; Autism; Human genetics; Phenotype; Psychology; Developmental psychology; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001146221,0.0006012296,0.0005660637,0.0008304268,0.0004312371,0.0005702861,0.0003625764,0.0004698043,0.002633319],"category_scores_gemma":[0.00349259,0.0002299426,0.0008287118,0.0008423032,0.0004280115,0.0002118272,0.0003775101,0.000361667,0.0002158381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002007617,"about_ca_system_score_gemma":0.0001332399,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002735818,"about_ca_topic_score_gemma":0.002182546,"domain_scores_codex":[0.9990951,0.0003221189,0.00005877169,0.0003680156,0.000106349,0.00004967472],"domain_scores_gemma":[0.9982645,0.001181914,0.0002837107,0.0001435923,0.00004594383,0.00008043324],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005967356,0.00004167846,0.9716086,0.00003521343,0.001370555,0.0004631449,0.0001312152,0.002277134,0.01380236,0.0002020201,0.0003022834,0.009169093],"study_design_scores_gemma":[0.00003465302,0.0001241299,0.9926465,0.000006530113,0.0003426833,0.0004834522,0.00005459614,0.004142781,0.00126588,0.0003758142,0.0005112466,0.00001190957],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974439,0.0003045961,0.001185885,0.00005634434,0.00000782652,0.000005474333,0.0007293596,0.00003488618,0.0002317972],"genre_scores_gemma":[0.9987524,0.00007088572,0.0005110737,0.00001626338,0.000008905321,0.00001108719,0.0004525839,0.000007374488,0.0001694018],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002735818,"threshold_uncertainty_score":0.008809388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01741978626702842,"score_gpt":0.2199186703334985,"score_spread":0.2024988840664701,"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."}}