{"id":"W3019132341","doi":"10.1101/2020.04.21.20073759","title":"Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Paul's Hospital","funders":"Medical Research Council; NIHR BioResource; NHS Blood and Transplant; Università di Bologna; National Institute for Health and Care Research; Wellcome Trust","keywords":"Penetrance; Mitochondrial DNA; Biology; Amino acid; Mutation; Mitochondrion; Citric acid cycle; Mitochondrial biogenesis; Genetics; Respiratory chain; Mitochondrial disease; Mitochondrial myopathy; Gene; Mitochondrial respiratory chain; Catabolism; Endocrinology; Phenotype; Metabolism","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001911347,0.0002713954,0.0002332473,0.0003174831,0.0001285448,0.0001571203,0.0001950892,0.0003199058,0.001484081],"category_scores_gemma":[0.0004170283,0.00008621604,0.0001516799,0.0001493601,0.0002677929,0.00008496225,0.0002745154,0.0002697236,0.0003471533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002001508,"about_ca_system_score_gemma":0.00009178473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004341419,"about_ca_topic_score_gemma":0.0002957064,"domain_scores_codex":[0.999915,0.00001619189,0.000008770116,0.0000206632,0.00001615538,0.00002308266],"domain_scores_gemma":[0.9998645,0.00002314276,0.00005342342,0.0000153864,0.00001623902,0.0000274221],"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":[0.00262068,0.0001687798,0.09806302,0.0001549741,0.00007920862,0.02773193,0.0003633795,0.0005954035,0.8432456,0.0008457296,0.0007800493,0.0253512],"study_design_scores_gemma":[0.00009498894,0.00150527,0.6167865,0.00004800121,0.00009957195,0.07946571,0.0004440744,0.003303722,0.2925319,0.001389735,0.004301217,0.00002919737],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981993,0.0004496883,0.0006418596,0.00005218807,0.000008586664,0.000005913155,0.0001103701,0.00003075067,0.0005012069],"genre_scores_gemma":[0.9991699,0.0001172005,0.000208507,0.00001348968,0.000004784644,0.000003798847,0.0001168428,0.000006672395,0.0003587173],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001484081,"threshold_uncertainty_score":0.004964769,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02804591858548163,"score_gpt":0.2644416450571034,"score_spread":0.2363957264716217,"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."}}