{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002118703,0.0004730345,0.0005814741,0.00007403119,0.0001934935,0.00005534001,0.0005658636,0.00096968,0.001301821],"category_scores_gemma":[0.001043787,0.0003691483,0.0006790999,0.0001933973,0.0003279693,0.000002702906,0.0003252173,0.000863621,0.00009372817],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002462638,"about_ca_system_score_gemma":0.0005777095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005691114,"about_ca_topic_score_gemma":0.00005199958,"domain_scores_codex":[0.9966786,0.0008841185,0.0006546265,0.0008847755,0.0003495746,0.0005483418],"domain_scores_gemma":[0.9976257,0.0001394037,0.0004291202,0.001352653,0.0002594271,0.0001936673],"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":[0.0005010939,0.00009597572,0.0004110105,0.0003216553,0.0003262074,0.0002836381,0.0001833665,0.00001397498,0.3317094,0.00004950016,0.6643616,0.001742567],"study_design_scores_gemma":[0.0009430135,0.0001625266,0.0001460202,0.0001359329,0.0003069145,0.00003624807,0.00007953557,0.00001786624,0.02359318,0.00003275238,0.9741597,0.000386332],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.07672853,0.03850311,0.01402404,0.7284099,0.1005025,0.006069871,0.003283309,0.0001192678,0.03235941],"genre_scores_gemma":[0.05456907,0.00351341,0.005774777,0.5282119,0.1492569,0.0008559475,0.02354546,0.0006588238,0.2336137],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.3097981,"threshold_uncertainty_score":0.999876,"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."}}