{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002097857,0.0003452187,0.0002662841,0.001419265,0.0005810706,0.0002585398,0.0002644027,0.0002452752,0.001938099],"category_scores_gemma":[0.0007723402,0.000124559,0.0002212041,0.001166456,0.0002675346,0.0001266509,0.0002567375,0.0001285703,0.0001239272],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003819371,"about_ca_system_score_gemma":0.0003255646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01837906,"about_ca_topic_score_gemma":0.01466254,"domain_scores_codex":[0.9997762,0.00002481598,0.00002146725,0.00008342279,0.00005993575,0.00003423181],"domain_scores_gemma":[0.9997761,0.00005448454,0.00008018607,0.00001983367,0.00003480193,0.00003464563],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001834855,0.00003739726,0.9705999,0.00003868977,0.0001211785,0.004901409,0.001055041,0.0001818116,0.01162921,0.0001921218,0.0003264984,0.01073322],"study_design_scores_gemma":[0.00001023551,0.00005577029,0.9940946,0.000004846037,0.00006502752,0.003915126,0.0002582853,0.0003453679,0.0006609852,0.0001398286,0.0004415448,0.000008411795],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991552,0.000129811,0.00009221798,0.00002321803,0.00000298768,0.000008708267,0.0001176448,0.000005388235,0.0004648918],"genre_scores_gemma":[0.9993999,0.00007699848,0.0001359159,0.00001893945,0.000005029077,0.000009565299,0.0001357242,0.000002221655,0.0002157444],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01837906,"threshold_uncertainty_score":0.03654414,"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."}}