{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000235176,0.001238842,0.0004426934,0.0005808674,0.0004357346,0.0003767674,0.0005185202,0.00141958,0.001836043],"category_scores_gemma":[0.0007803322,0.0001908566,0.0006452273,0.0005422904,0.0007794099,0.0002828872,0.0004682151,0.0008812094,0.0008848023],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004433822,"about_ca_system_score_gemma":0.0003914789,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001184092,"about_ca_topic_score_gemma":0.001424126,"domain_scores_codex":[0.9997458,0.0000550929,0.00003722124,0.00006862055,0.00004558698,0.0000476502],"domain_scores_gemma":[0.9995327,0.000111318,0.0001944534,0.00003352257,0.00002878456,0.000099207],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0009342561,0.0001538361,0.03053122,0.0002242499,0.0001909196,0.7380211,0.0002575997,0.0006047738,0.2129146,0.001936694,0.003452565,0.01077823],"study_design_scores_gemma":[0.0002130336,0.0008792075,0.1061422,0.0001398345,0.0002890095,0.8076928,0.0003725316,0.001756925,0.06484825,0.003101139,0.01445405,0.0001110775],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.980345,0.001307298,0.005203095,0.003582167,0.0005967984,0.0001260483,0.00136151,0.0004764748,0.007001516],"genre_scores_gemma":[0.9950061,0.0003103441,0.001862732,0.0009654184,0.0001662987,0.00001360155,0.000387071,0.00005071574,0.001237757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001836043,"threshold_uncertainty_score":0.006142139,"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."}}