{"id":"W3026721625","doi":"10.3233/jnd-200510","title":"Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families","year":2020,"lang":"en","type":"article","venue":"Journal of Neuromuscular Diseases","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"European Social Fund; National Eye Institute; National Heart, Lung, and Blood Institute; Medical Research Council; Canadian Institutes of Health Research; Lily Foundation; Canada Research Chairs; National Institutes of Health; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; National Institute of Neurological Disorders and Stroke; Bundesministerium für Bildung und Forschung; Muscular Dystrophy Canada; Newton Fund; Broad Institute; Türkiye Bilimler Akademisi; National Human Genome Research Institute; Wellcome Trust","keywords":"Medicine; Disease; Genetics; Leigh disease; Gene; Internal medicine; Mutation; Biology","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":[0.0007988967,0.00296107,0.0007598266,0.003208296,0.001893045,0.0008876747,0.001336029,0.002285121,0.004552106],"category_scores_gemma":[0.005265171,0.0006393952,0.00120559,0.001132474,0.001593622,0.0006188806,0.001446467,0.001206129,0.0007355915],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001084883,"about_ca_system_score_gemma":0.0006450705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003366395,"about_ca_topic_score_gemma":0.002247446,"domain_scores_codex":[0.9986355,0.0002234765,0.0001640137,0.0004331797,0.0002657466,0.0002780741],"domain_scores_gemma":[0.9969502,0.00129129,0.0005139046,0.0002593466,0.0003018641,0.0006834294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000454651,0.0002885323,0.09335302,0.0001329813,0.0001132001,0.8656971,0.004283092,0.0002668712,0.02343786,0.0006996912,0.0008903252,0.01038262],"study_design_scores_gemma":[0.000137014,0.0003383382,0.07937079,0.00006354677,0.0001223144,0.9102639,0.000567896,0.0006028247,0.005533545,0.0002838178,0.00265428,0.00006165158],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962668,0.0003567162,0.0008982396,0.0002535898,0.0000666134,0.00004662626,0.0002180754,0.00005983049,0.001833555],"genre_scores_gemma":[0.9975191,0.0002518447,0.001045722,0.0001456094,0.00008405088,0.00004030887,0.0003048288,0.00002678334,0.0005817287],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004552106,"threshold_uncertainty_score":0.01522827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01195942363182395,"score_gpt":0.2514056756315385,"score_spread":0.2394462519997145,"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."}}