{"id":"W4282001849","doi":"10.1212/wnl.0000000000200745","title":"Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis","year":2022,"lang":"en","type":"article","venue":"Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Impact","funders":"","keywords":"Mitochondrial DNA; Mitochondrial disease; Disease; Genome; Computational biology; Whole genome sequencing; Biology; Genetics; Medicine; Pathology; Gene","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":[0.002131787,0.0004224115,0.0003047065,0.00144953,0.0001887788,0.0004945631,0.0002701722,0.0004534551,0.001163447],"category_scores_gemma":[0.003662635,0.0001535193,0.0002509977,0.0005426498,0.0002683025,0.0002632506,0.0004718566,0.0002902242,0.0003980922],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001571962,"about_ca_system_score_gemma":0.0002681168,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008048172,"about_ca_topic_score_gemma":0.001974228,"domain_scores_codex":[0.9991183,0.0004367694,0.00006350084,0.0001908268,0.0001561515,0.00003456303],"domain_scores_gemma":[0.9984369,0.0007420498,0.0002461842,0.0001911484,0.000287557,0.00009622864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001152268,0.0002165936,0.5390537,0.0005755046,0.0006962045,0.001154892,0.000573925,0.003867565,0.2288315,0.0007627037,0.002808065,0.2203071],"study_design_scores_gemma":[0.0001407977,0.00148598,0.8760554,0.0003093848,0.0004683117,0.01031199,0.0003089366,0.02195285,0.07360329,0.00239265,0.01289938,0.00007102879],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9282503,0.005604322,0.05701567,0.0005299252,0.0001160988,0.0003078256,0.002765349,0.0003604319,0.005050128],"genre_scores_gemma":[0.9582366,0.001577035,0.03719198,0.0003158237,0.00005278245,0.0001099523,0.001648,0.00003472969,0.0008331664],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002131787,"threshold_uncertainty_score":0.0112741,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03384182889207753,"score_gpt":0.2483474840655414,"score_spread":0.2145056551734638,"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."}}