{"id":"W4210678157","doi":"10.3390/genes13020207","title":"Mutational Landscape of Autism Spectrum Disorder Brain Tissue","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Memorial University of Newfoundland; Genome Canada; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Mental Health; University of Toronto; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Hospital for Sick Children; Autism Speaks","keywords":"Exome sequencing; Germline; Autism spectrum disorder; Biology; Neurodevelopmental disorder; Autism; Genetics; PTEN; Mutation; Germline mutation; Gene; Medicine; 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":[0.00005728554,0.00007487641,0.00006653446,0.00003392426,0.00009534947,0.000004586206,0.0001253254,0.0000231615,0.0003981141],"category_scores_gemma":[0.000006542747,0.00008174688,0.00003491963,0.00007785947,0.00002671223,8.087771e-7,0.0001684985,0.00003233205,0.000005357191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003118085,"about_ca_system_score_gemma":0.00005170684,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001344873,"about_ca_topic_score_gemma":0.00003325763,"domain_scores_codex":[0.9994193,0.00003214587,0.0001148752,0.0001839233,0.0001275377,0.0001222635],"domain_scores_gemma":[0.9997945,0.000005294301,0.00004234919,0.0001244792,0.0000071615,0.00002617879],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004041327,0.0001140624,0.01049003,0.00001374575,0.00003831575,0.000004272911,0.0001022743,0.00313906,0.9714378,0.0005608496,0.006576181,0.007483034],"study_design_scores_gemma":[0.0009832308,0.0006577077,0.2126929,0.000001962076,0.00001234349,0.00005392044,0.0004143812,0.0001228039,0.2547917,0.001500404,0.5284173,0.0003513524],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951934,0.001803406,0.0002978894,0.001438561,0.0001605639,0.00009280617,0.00005764662,0.000005243642,0.0009504363],"genre_scores_gemma":[0.9973412,0.00008328484,0.0003061767,0.0002993362,0.00001389483,0.00002632298,0.0002677372,0.00001385687,0.001648205],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7166461,"threshold_uncertainty_score":0.435907,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005388137719628755,"score_gpt":0.2299800804193604,"score_spread":0.2245919426997317,"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."}}