{"id":"W3118471569","doi":"10.1016/j.medj.2020.12.015","title":"Cutting the Gordian Knot of a Mitochondrial Disease","year":2021,"lang":"no","type":"letter","venue":"Med","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Exome sequencing; Mitochondrial DNA; Genomics; Exome; Gene duplication; Mitochondrial disease; Disease; Biology; Genetic architecture; Genome; Computational biology; Genetics; Evolutionary biology; Medicine; Gene; Pathology; Mutation","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":[0.001992059,0.000856282,0.001204445,0.0005835657,0.002470617,0.00228758,0.001278384,0.04072437,0.003745714],"category_scores_gemma":[0.01430679,0.0006975413,0.0007891866,0.000330745,0.003035945,0.002893153,0.001557103,0.02592524,0.002296394],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002344879,"about_ca_system_score_gemma":0.001069311,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001076448,"about_ca_topic_score_gemma":0.001256297,"domain_scores_codex":[0.9986745,0.0005042307,0.0001367736,0.0001651948,0.0003084094,0.0002108592],"domain_scores_gemma":[0.9966598,0.00198456,0.0002681515,0.0001851897,0.0002568612,0.0006454373],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005985263,0.0001144805,0.001154418,0.0001479711,0.00006331892,0.01767144,0.0002411857,0.0002588547,0.001138583,0.01917605,0.9425589,0.01687622],"study_design_scores_gemma":[0.001081706,0.0004590113,0.003758999,0.0003443217,0.0001298316,0.0293241,0.0005590537,0.003346433,0.001984108,0.1405213,0.8182508,0.0002403083],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.003347609,0.003014446,0.0003668666,0.9488453,0.03972688,0.00001686497,0.00003796084,0.00004616657,0.004597915],"genre_scores_gemma":[0.05363952,0.002988898,0.000870028,0.7671096,0.1617537,0.00007886851,0.0000514135,0.00005812244,0.01344985],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.04072437,"threshold_uncertainty_score":0.01701337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01572213669356806,"score_gpt":0.240600300291429,"score_spread":0.2248781635978609,"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."}}