{"id":"W4281564788","doi":"10.1016/j.gim.2022.05.001","title":"Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; St. Michael's Hospital; Trillium Health Centre","funders":"National Human Genome Research Institute; National Institutes of Health; BioMarin Pharmaceutical","keywords":"Autism; Intellectual disability; Disease; Autism spectrum disorder; Genetic testing; Genetics; Medicine; Psychiatry; Biology; Pathology","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":[0.01764973,0.00102589,0.0006724381,0.006096317,0.001176014,0.00201651,0.002000144,0.001941864,0.002869177],"category_scores_gemma":[0.07662123,0.0003383003,0.001445507,0.001790271,0.001786483,0.00136562,0.002474555,0.001009863,0.001011291],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007133033,"about_ca_system_score_gemma":0.001490811,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004043589,"about_ca_topic_score_gemma":0.004450418,"domain_scores_codex":[0.9852784,0.005238593,0.002426363,0.002551459,0.003325294,0.00117999],"domain_scores_gemma":[0.93269,0.04175147,0.008720879,0.003566224,0.01148211,0.001789278],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000331356,0.00003134223,0.988237,0.00006777086,0.000147324,0.0007038958,0.0003425437,0.0003260284,0.001594384,0.0003722268,0.0007657447,0.007080411],"study_design_scores_gemma":[0.00006379633,0.0003402245,0.9698352,0.0003967955,0.0005816885,0.007863895,0.001458531,0.006244117,0.005996035,0.001989798,0.005178668,0.00005124904],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9819278,0.002016487,0.003878047,0.00118232,0.0002374125,0.0001193983,0.001507402,0.00009266581,0.00903849],"genre_scores_gemma":[0.9942604,0.0002912219,0.003230541,0.000401409,0.00008657746,0.00006680567,0.001089957,0.0000469972,0.0005261089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01764973,"threshold_uncertainty_score":0.09334177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09497170549550839,"score_gpt":0.3861130047689613,"score_spread":0.2911412992734529,"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."}}