{"id":"W2062737903","doi":"10.1186/1866-1955-6-34","title":"Copy number variation in Han Chinese individuals with autism spectrum disorder","year":2014,"lang":"en","type":"article","venue":"Journal of Neurodevelopmental Disorders","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":64,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Hospital for Sick Children; Ontario Genomics Institute; Canadian Institute for Advanced Research; Ontario Brain Institute; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; University of Toronto; GlaxoSmithKline; Government of Ontario; Autism Speaks","keywords":"Copy-number variation; Autism; Proband; Genetics; Autism spectrum disorder; Gene duplication; Intellectual disability; Biology; Population; Medicine; Gene; Mutation; Psychiatry; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001953524,0.0001532195,0.0001657672,0.00008160718,0.00006660698,0.00003426744,0.0001632671,0.00006259014,0.00005593547],"category_scores_gemma":[0.00003150545,0.0001213783,0.00005360987,0.0001452322,0.00003740641,0.0000209404,0.0000519615,0.0001173358,0.000007476336],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002287374,"about_ca_system_score_gemma":0.0000981166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003274363,"about_ca_topic_score_gemma":0.0002457003,"domain_scores_codex":[0.999042,0.00007439345,0.0003510809,0.0001613151,0.0001813863,0.000189813],"domain_scores_gemma":[0.9995822,0.00001315248,0.0002239379,0.0001080334,0.0000156884,0.00005699422],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007338383,0.0001554052,0.9944705,0.000009176641,0.00004910999,0.000002490799,0.0004875138,0.0005396436,0.003267539,0.0002494277,0.000132026,0.0005637323],"study_design_scores_gemma":[0.001507194,0.0002873414,0.9891934,0.00001627986,0.00001033044,0.0001047012,0.0001471054,0.00002228291,0.0005115545,0.001185034,0.006829766,0.0001849449],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955001,0.00003019859,0.00204051,0.0008965974,0.0001728932,0.00008940743,0.000004735817,0.000003703597,0.00126182],"genre_scores_gemma":[0.9975195,0.00009820081,0.001875733,0.0002142571,0.00005363367,0.000004910976,0.00002182104,0.00002030489,0.0001916194],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00669774,"threshold_uncertainty_score":0.4949664,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002674868074076173,"score_gpt":0.2025785738344094,"score_spread":0.1999037057603333,"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."}}