{"id":"W2129867386","doi":"10.1016/j.ajhg.2014.03.018","title":"Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1028,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Holland Bloorview Kids Rehabilitation Hospital; Memorial University of Newfoundland; University of Alberta; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital; Ontario Genomics; University of Toronto; Hospital for Sick Children; Cancer Care Ontario; McMaster University; Public Health Ontario","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Hospital for Sick Children; National Institute of Mental Health; Medical Research Council; Ontario Genomics Institute; Wellcome Trust; National Alliance for Research on Schizophrenia and Depression; Health Research Board; Canadian Institutes of Health Research; National Institute of General Medical Sciences; National Institute for Health and Care Research; Genome Canada; Brain and Behavior Research Foundation","keywords":"Copy-number variation; Genetics; Autism; Gene; Biology; Intellectual disability; Single-nucleotide polymorphism; Autism spectrum disorder; Loss function; Phenotype; Medicine; Genome; Genotype; Psychiatry","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":[0.0002642973,0.0002944721,0.0003947139,0.001172726,0.0002016628,0.0004456874,0.0002221089,0.0003628406,0.001726397],"category_scores_gemma":[0.0007684591,0.0001777128,0.0002274251,0.000677891,0.0003829307,0.0002630983,0.0005593584,0.0002409921,0.0002378529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002356938,"about_ca_system_score_gemma":0.0001875188,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005442999,"about_ca_topic_score_gemma":0.0005451886,"domain_scores_codex":[0.9994882,0.00006949957,0.00004123124,0.0002075167,0.000142644,0.0000509201],"domain_scores_gemma":[0.9996461,0.0001125427,0.0001148632,0.00002856755,0.00003779609,0.00006011644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001345592,0.00006505912,0.3321934,0.0002151839,0.0003712389,0.004113618,0.0004061296,0.0008972924,0.621558,0.001599629,0.0005603114,0.03667459],"study_design_scores_gemma":[0.00002357975,0.0001266095,0.9764352,0.00001846315,0.0001341952,0.006514356,0.0001576487,0.0009283526,0.01302514,0.001147733,0.001477982,0.00001078971],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950729,0.002371571,0.001071814,0.00009460179,0.000009027013,0.000004655917,0.0003778143,0.00003846224,0.0009591165],"genre_scores_gemma":[0.9970644,0.0007829275,0.001299083,0.00005133577,0.0000150319,0.000007767443,0.0004075613,0.00001256582,0.0003592829],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001726397,"threshold_uncertainty_score":0.005775332,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005465712231729811,"score_gpt":0.2007686517389237,"score_spread":0.1953029395071939,"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."}}