{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004987387,0.0001141179,0.0002159343,0.00008876374,0.00002410685,0.00001078193,0.000140504,0.00003605931,0.000599749],"category_scores_gemma":[0.0006039678,0.0001054418,0.0002385125,0.0001159268,0.0000644244,0.00001317948,0.00004134825,0.00009229089,0.00001144268],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006116432,"about_ca_system_score_gemma":0.0001879764,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002947127,"about_ca_topic_score_gemma":0.000001710469,"domain_scores_codex":[0.9989406,0.0001625145,0.0003915015,0.0001628633,0.0002319741,0.0001105646],"domain_scores_gemma":[0.9992036,0.00003098917,0.0002432401,0.0001301723,0.0001410322,0.0002509159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002837627,0.000617693,0.018599,0.0001802488,0.0001842422,0.00179958,0.0001003081,0.003995392,0.953444,0.000216646,0.01717203,0.0008532024],"study_design_scores_gemma":[0.0121601,0.00547579,0.7414514,0.000281139,0.0006307026,0.00209451,0.0003994934,0.0008085219,0.05851344,0.00128898,0.1758565,0.001039475],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968376,0.0009586675,0.0006739354,0.0005639993,0.0002295107,0.0001121716,0.0005279302,0.000004235113,0.00009191483],"genre_scores_gemma":[0.9977669,0.0002544628,0.0001991792,0.001120942,0.0002912151,0.000006450068,0.0003236665,0.00001317833,0.00002405395],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8949306,"threshold_uncertainty_score":0.6566831,"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."}}