{"id":"W2163081943","doi":"10.1038/mp.2014.150","title":"The phenotypic manifestations of rare genic CNVs in autism spectrum disorder","year":2014,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Medical Research Council; Research Institute, Nationwide Children's Hospital; National Institutes of Health; Meath Foundation; Irish Research Council; Irish Research Council for Science, Engineering and Technology; Health Research Board; Canadian Institutes of Health Research; Genome Canada; Nationwide Children's Hospital; Autism Speaks","keywords":"Autism; Autism spectrum disorder; Phenotype; Heritability of autism; Genetics; Copy-number variation; Psychology; Psychiatry; Biology; Gene; Genome","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":[0.0005176069,0.0002108378,0.0003299818,0.001403825,0.0002111583,0.0002885888,0.000181073,0.0003160682,0.001221222],"category_scores_gemma":[0.003074192,0.0001267169,0.000190203,0.0006765131,0.0005003583,0.0002076347,0.0005501872,0.0001953796,0.0001541448],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001276658,"about_ca_system_score_gemma":0.0001191508,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001114493,"about_ca_topic_score_gemma":0.001460903,"domain_scores_codex":[0.9994672,0.0001405477,0.000059043,0.0001847466,0.0001021811,0.00004616311],"domain_scores_gemma":[0.9986291,0.0007106737,0.0004203238,0.0000848444,0.00006214433,0.00009288408],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004825621,0.00002919673,0.9489906,0.00004318822,0.00009802507,0.002971948,0.0004032328,0.0005257666,0.03398487,0.0001758799,0.0001034231,0.01219129],"study_design_scores_gemma":[0.000004433188,0.00004606783,0.9943169,0.000004736391,0.00001688375,0.004239364,0.00008124095,0.000337459,0.0006852187,0.0001602306,0.0001035793,0.000003922048],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993758,0.00009689116,0.0002098825,0.000007046707,8.249673e-7,0.000002270802,0.00009285961,0.000004630651,0.0002099258],"genre_scores_gemma":[0.9995458,0.00004581947,0.0002581196,0.00000560183,0.000001684673,0.000003109446,0.0001011191,0.000002658486,0.00003612347],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001403825,"threshold_uncertainty_score":0.004085362,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00865307880079528,"score_gpt":0.2616542449502737,"score_spread":0.2530011661494784,"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."}}