{"id":"W2231655718","doi":"10.1371/journal.pgen.1005679","title":"A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies","year":2016,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":305,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Genetics; Ministry of Education, Culture, Sports, Science and Technology; Japan Society for the Promotion of Science; Saitama Medical University; Keio University; RIKEN; Japan Agency for Medical Research and Development","keywords":"Biology; Mitochondrial disease; Genetics; Mitochondrial DNA; Mitochondrial respiratory chain; Respiratory chain; Genetic heterogeneity; Exome sequencing; Gene; Mitochondrion; Mutation; Exome; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009706792,0.0002019891,0.0003256205,0.0001293979,0.0001109456,0.00001454716,0.0003909656,0.0001718331,0.0002025674],"category_scores_gemma":[0.0001040742,0.0001264454,0.0002393761,0.000297233,0.0002868052,0.000001649429,0.0001710813,0.00006483756,0.00003469114],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001118765,"about_ca_system_score_gemma":0.00007615738,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002415763,"about_ca_topic_score_gemma":0.00004145902,"domain_scores_codex":[0.998345,0.0002835706,0.0004360531,0.0004258325,0.0002132805,0.0002962652],"domain_scores_gemma":[0.9985874,0.00009105038,0.0002174928,0.0007862778,0.0002321643,0.00008556935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001025621,0.00004811641,0.01706086,0.00001214765,0.0002945828,0.000001804434,0.00008123185,0.0003162866,0.9793013,0.00003790763,0.002427114,0.0003160818],"study_design_scores_gemma":[0.002488254,0.001405568,0.07712143,0.00002256871,0.001129042,0.00002837645,0.0003035806,0.0007043942,0.7962865,0.0002080979,0.1195994,0.0007028517],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915878,0.002074634,0.00505083,0.0001551226,0.0002902357,0.0003248146,0.0001109412,0.00001304136,0.0003926003],"genre_scores_gemma":[0.9953017,0.0003055396,0.002504704,0.0007604997,0.0006191971,0.00003686773,0.00003659408,0.00002839287,0.0004064667],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1830148,"threshold_uncertainty_score":0.5156292,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03675846247989294,"score_gpt":0.2540529722529146,"score_spread":0.2172945097730216,"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."}}