{"id":"W3087078523","doi":"10.1016/j.ymgme.2020.08.009","title":"MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Alberta; University of Calgary","funders":"Alberta Children's Hospital Research Institute","keywords":"Mitochondrial DNA; Mitochondrial disease; Neuropathology; Respiratory chain; Mitochondrial respiratory chain; Disease; Mitochondrion; Pathology; Medicine; Mitochondrial myopathy; Biopsy; Bioinformatics; Biology; Genetics; Gene","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":[0.0002902308,0.0003968274,0.0003816257,0.0004835049,0.0005655753,0.0004500368,0.0002755343,0.0004113672,0.001529759],"category_scores_gemma":[0.001292843,0.0002912307,0.0002418945,0.0006043648,0.0002804852,0.0004409374,0.0003004808,0.0004177721,0.0004970704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003565366,"about_ca_system_score_gemma":0.000258578,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002322464,"about_ca_topic_score_gemma":0.002251131,"domain_scores_codex":[0.9997579,0.00003119872,0.00002745705,0.00009011246,0.00004642632,0.00004679973],"domain_scores_gemma":[0.9993885,0.0001768712,0.0001469856,0.00004975369,0.00007579814,0.0001621264],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003205981,0.00004753446,0.9945335,0.000005398211,0.00001568328,0.0009866151,0.0001318099,0.00002906048,0.002191823,0.00003619495,0.00008698498,0.001614616],"study_design_scores_gemma":[0.00005727001,0.0004366804,0.989189,0.000009678896,0.00006471032,0.007912296,0.0003799901,0.0003388814,0.0008552389,0.00008868672,0.0006579795,0.000009573471],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990973,0.0001107658,0.00008983882,0.00002423383,0.000002404395,0.000005682565,0.000214372,0.000003242441,0.0004522563],"genre_scores_gemma":[0.9991432,0.00008394761,0.0001396656,0.00004203775,0.000006305096,0.00000777054,0.0003789434,0.000005132933,0.0001929005],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002322464,"threshold_uncertainty_score":0.005117536,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02025067010696241,"score_gpt":0.2634286178008,"score_spread":0.2431779476938375,"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."}}