{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002367236,0.00008934324,0.0001829368,0.0000474852,0.00005102621,0.000008695671,0.0002005425,0.00002427269,0.0000118773],"category_scores_gemma":[0.000006954979,0.00006836042,0.00005281629,0.00006978801,0.0003102951,0.000002187481,0.00006229231,0.00006555209,4.18305e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006009034,"about_ca_system_score_gemma":0.00003371261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003895556,"about_ca_topic_score_gemma":0.00005804307,"domain_scores_codex":[0.9992777,0.0001079379,0.0003095922,0.0000878646,0.00008831623,0.0001285806],"domain_scores_gemma":[0.9993799,0.00001270801,0.0003653601,0.0001805494,0.00002238445,0.00003914331],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005830439,0.00006223335,0.05052179,0.00001556533,0.00007492926,0.000001719956,0.000751072,0.001494318,0.9401411,0.002524251,0.00003089521,0.004323774],"study_design_scores_gemma":[0.00129947,0.004980586,0.2920937,0.00004513844,0.0001020591,0.000106032,0.001910259,0.0006772109,0.6789975,0.01699674,0.002380866,0.0004104801],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997752,0.001153871,0.000736989,0.0001828784,0.00005233444,0.0000424155,0.000003626627,0.000001126477,0.00007481986],"genre_scores_gemma":[0.9988756,0.0006280622,0.0003431422,0.00004067451,0.00006731879,7.102191e-7,0.000002872063,0.00001027205,0.00003140804],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2611436,"threshold_uncertainty_score":0.2787657,"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."}}