{"id":"W3121501086","doi":"10.2139/ssrn.3371405","title":"Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism","year":2019,"lang":"en","type":"article","venue":"SSRN Electronic Journal","topic":"Single-cell and spatial transcriptomics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":false,"ca_institutions":"Genome Canada; McMaster University; University of Toronto","funders":"","keywords":"Exome sequencing; Autism; Autism spectrum disorder; Biology; Copy-number variation; Phenotype; Gene; Neurodevelopmental disorder; Genetics; Neuroscience; Exome; Psychology; Genome; Developmental psychology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.000208484,0.0004209751,0.0003135172,0.000690029,0.0002757451,0.0004130046,0.0002635847,0.000629114,0.003111872],"category_scores_gemma":[0.0003432715,0.0001810707,0.0004274907,0.0002942104,0.0003365667,0.0003050847,0.0004527436,0.0005595944,0.0005905306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001832816,"about_ca_system_score_gemma":0.000176608,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005864881,"about_ca_topic_score_gemma":0.001478915,"domain_scores_codex":[0.9998764,0.00001013968,0.00001318881,0.00004925082,0.00003603717,0.00001500216],"domain_scores_gemma":[0.9998074,0.00005140376,0.00006715794,0.00002415819,0.00002007737,0.00002987326],"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":[0.0003513519,0.00004215475,0.01732327,0.0001367087,0.0001218354,0.002602872,0.00009605496,0.0006177346,0.9550346,0.0008938765,0.0007095863,0.02206999],"study_design_scores_gemma":[0.00004850676,0.000336468,0.7177674,0.00008998192,0.0002890655,0.01606841,0.0003594752,0.0053222,0.2424996,0.004700307,0.01244953,0.00006911613],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814419,0.001492699,0.00921556,0.0004480708,0.0000802323,0.00001929143,0.004034174,0.0002718801,0.002996195],"genre_scores_gemma":[0.9862701,0.001169591,0.006200527,0.0002521143,0.00002944238,0.00003430215,0.003173661,0.00008713252,0.002783177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003111872,"threshold_uncertainty_score":0.01041025,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01096744891212348,"score_gpt":0.216383841305614,"score_spread":0.2054163923934905,"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."}}