{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001976941,0.0001899667,0.0001801927,0.001940836,0.0003291213,0.0004253374,0.0002015167,0.0002328781,0.002395076],"category_scores_gemma":[0.0005826942,0.0001133684,0.0001006115,0.0005308256,0.0001980157,0.0001296122,0.0003534666,0.0001010497,0.0004184178],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001834512,"about_ca_system_score_gemma":0.0001332354,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00124756,"about_ca_topic_score_gemma":0.00240984,"domain_scores_codex":[0.9998013,0.00002307253,0.00002059943,0.00007385674,0.00004704507,0.0000340658],"domain_scores_gemma":[0.9997831,0.00005737482,0.00004585335,0.00001780222,0.00006147377,0.00003433177],"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":[0.0003470998,0.00002303124,0.0850532,0.00008895578,0.00005506864,0.002417112,0.0003064177,0.0002760968,0.8981094,0.0002217631,0.0002818954,0.01282],"study_design_scores_gemma":[0.00002192258,0.0002699193,0.8803355,0.00004611622,0.00009109294,0.01503169,0.0007166422,0.001416426,0.09594245,0.0007305092,0.005378901,0.00001876075],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973722,0.0006107249,0.0004897679,0.00003700133,0.000002644912,0.000007557011,0.000661322,0.00002102263,0.0007979261],"genre_scores_gemma":[0.9960616,0.0004499848,0.001048672,0.00003226622,0.00000358054,0.00001605757,0.001614821,0.00001978619,0.0007533125],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002395076,"threshold_uncertainty_score":0.008012295,"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."}}