{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003140968,0.00005623525,0.0001370486,0.00003097337,0.00001837144,0.000002106756,0.00009522898,0.00001608059,0.00001338061],"category_scores_gemma":[0.00004448999,0.00002275145,0.00003857883,0.00003058208,0.0001344967,0.000001900119,0.00003185248,0.00002824644,1.783068e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002571798,"about_ca_system_score_gemma":0.00002685559,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001259409,"about_ca_topic_score_gemma":0.000005709618,"domain_scores_codex":[0.9995441,0.0000361332,0.0001914737,0.00005992946,0.0000996015,0.00006874182],"domain_scores_gemma":[0.9996369,0.00002508489,0.0001389729,0.00009532086,0.00003526544,0.00006841112],"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":[0.002056418,0.00004000548,0.007405346,0.0001010536,0.0006011829,0.00007151753,0.0005287402,0.0000359625,0.2727627,0.002951031,0.002233761,0.7112123],"study_design_scores_gemma":[0.2917963,0.003856416,0.136543,0.001212825,0.001417314,0.002070081,0.001944666,0.00002748777,0.01690652,0.02000338,0.5237041,0.0005178743],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9881921,0.007060609,0.0005944209,0.00349647,0.0001680122,0.00004940828,0.000001604595,6.297893e-7,0.0004366927],"genre_scores_gemma":[0.9861915,0.01281535,0.0001099949,0.000144702,0.0005140645,3.803006e-7,6.552366e-7,0.000004950874,0.0002184225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7106944,"threshold_uncertainty_score":0.09277774,"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."}}