{"id":"W2519012620","doi":"10.1016/j.mito.2015.07.121","title":"Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases","year":2015,"lang":"en","type":"article","venue":"Mitochondrion","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University Medical Centre","funders":"","keywords":"Exome sequencing; Mitochondrial DNA; Mitochondrial disease; Exome; Biology; Computational biology; Genetics; DNA sequencing; Genome; Gene; 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":[0.003223957,0.0008541686,0.000617478,0.001675318,0.0006409474,0.001559404,0.001566024,0.002565916,0.002123211],"category_scores_gemma":[0.01171062,0.0005415667,0.0007065968,0.000992634,0.001294258,0.002674176,0.001258128,0.002386258,0.001096458],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009409358,"about_ca_system_score_gemma":0.0007493611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002797719,"about_ca_topic_score_gemma":0.004108382,"domain_scores_codex":[0.9986516,0.0002762429,0.0001752425,0.0003418617,0.0003679154,0.0001872178],"domain_scores_gemma":[0.9943774,0.002735979,0.0002117508,0.000773487,0.001329586,0.0005718547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0007718324,0.0002821487,0.22713,0.0007313655,0.0003462755,0.1190475,0.002854741,0.002732585,0.02453749,0.01769498,0.04159207,0.5622792],"study_design_scores_gemma":[0.0001521157,0.0004294622,0.2070581,0.002462966,0.0006673371,0.4436659,0.005141364,0.009565241,0.02660817,0.07455644,0.2293331,0.0003597268],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7725444,0.05389272,0.0701184,0.05784437,0.002499598,0.0001718887,0.002415698,0.0006245155,0.03988841],"genre_scores_gemma":[0.9264683,0.0273696,0.032698,0.006914517,0.001661539,0.0000473749,0.001125204,0.000306842,0.003408582],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003223957,"threshold_uncertainty_score":0.01705009,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03934223344084319,"score_gpt":0.2810726485176982,"score_spread":0.241730415076855,"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."}}