{"id":"W2405784650","doi":"10.1056/nejmoa1515792","title":"Exome Sequencing and the Management of Neurometabolic Disorders","year":2016,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":280,"is_retracted":false,"has_abstract":true,"ca_institutions":"National Institute for Nanotechnology; BC Children's Hospital; University of Toronto; SickKids Foundation; University of British Columbia; Hospital for Sick Children; Simon Fraser University; University of Alberta; Child and Family Research Institute","funders":"National Institute of General Medical Sciences; Fondation Leenaards; University of British Columbia; British Heart Foundation; Genome British Columbia; Michael Smith Health Research BC; BC Children's Hospital; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Exome sequencing; Medicine; Exome; Bioinformatics; Disease; Translation (biology); Intellectual disability; Computational biology; Genetics; Gene; Mutation; Pathology; Biology; 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":[0.001268674,0.0004589015,0.0003572033,0.000837607,0.000265693,0.0006372611,0.0004149594,0.0006035258,0.0008773283],"category_scores_gemma":[0.003973587,0.0001097068,0.000201209,0.0005450646,0.0003677962,0.0004891136,0.0007948728,0.0004600703,0.0002617053],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003047812,"about_ca_system_score_gemma":0.0004094572,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004611955,"about_ca_topic_score_gemma":0.0006059741,"domain_scores_codex":[0.9995891,0.0001955089,0.00004740407,0.00007191452,0.00006484939,0.0000312396],"domain_scores_gemma":[0.9990376,0.0004957761,0.0002238985,0.00005508828,0.0001213218,0.0000663224],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00238292,0.0003004934,0.2207148,0.001049977,0.0005419769,0.00665065,0.0009098804,0.01330865,0.05986404,0.005862999,0.01811319,0.6703005],"study_design_scores_gemma":[0.0005099179,0.001995941,0.5245124,0.003267532,0.0007843711,0.05692808,0.00284554,0.07709514,0.116996,0.09909076,0.1157704,0.0002040785],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8263957,0.05956602,0.08155496,0.01796297,0.0003799219,0.0001908037,0.002898155,0.0004970194,0.01055438],"genre_scores_gemma":[0.947194,0.01722515,0.02983468,0.002529291,0.0002142237,0.0001553742,0.001573042,0.00007851345,0.001195798],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001268674,"threshold_uncertainty_score":0.006709456,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007033889722137161,"score_gpt":0.221763875491836,"score_spread":0.2147299857696988,"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."}}