{"id":"W2939234892","doi":"10.1056/nejmoa1806627","title":"Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>","year":2019,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":105,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of British Columbia; St. Michael's Hospital; SickKids Foundation; University of Toronto; BC Children's Hospital; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary; University of Ottawa","funders":"Canadian Institutes of Health Research; Health Canada; Alberta Children's Hospital Research Institute; Natural Sciences and Engineering Research Council of Canada; Fondation Brain Canada; Alberta Children's Hospital Foundation; BC Children’s Hospital Foundation; Michael Smith Health Research BC; Stichting Metakids; National Ataxia Foundation; National Institutes of Health; Children's Hospital Foundation; Genome Canada; Genome British Columbia","keywords":"Trinucleotide repeat expansion; Ataxia; Biology; Genetics; Exome sequencing; Tandem repeat; Untranslated region; Genome; Allele; RNA; Gene; Mutation; Neuroscience","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":[0.0006815515,0.0001299561,0.0002829175,0.00008090542,0.00001728798,0.00000551943,0.0001729931,0.00008789911,0.0001026386],"category_scores_gemma":[0.0001595766,0.00009081334,0.00004931344,0.00011115,0.00004785329,0.000005143207,0.0000269559,0.0001456649,0.000003629334],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004794226,"about_ca_system_score_gemma":0.0001073162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000374151,"about_ca_topic_score_gemma":0.00004631037,"domain_scores_codex":[0.9988517,0.00007534176,0.0004148876,0.0001772749,0.0002892769,0.0001914753],"domain_scores_gemma":[0.9994165,0.00002182818,0.0001204129,0.000214392,0.00007113831,0.000155752],"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":[0.0002591955,0.00008858878,0.06426282,0.00001913542,0.00002146987,0.00003876377,0.0003477816,0.0001019746,0.8041382,0.00001544003,0.03729986,0.09340678],"study_design_scores_gemma":[0.06701399,0.004290123,0.05134822,0.0003491094,0.0001457661,0.0004829739,0.001226253,0.00005537814,0.1012231,0.0003723814,0.7729517,0.0005410732],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9838063,0.01224309,0.0006449911,0.0007471915,0.0005532091,0.00009920665,0.00000194397,0.00000197863,0.001902081],"genre_scores_gemma":[0.9950308,0.002574266,0.00009526618,0.0005307284,0.0006894252,6.324547e-7,0.00002203221,0.00001240639,0.001044438],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7356518,"threshold_uncertainty_score":0.370326,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006501314643500937,"score_gpt":0.2397277059588499,"score_spread":0.2332263913153489,"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."}}