{"id":"W4311507711","doi":"10.1016/j.gim.2022.11.001","title":"Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Biochemical Acid Research Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; McGill University","funders":"National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Great Ormond Street Hospital Charity; National Institute of General Medical Sciences; Medical Research Council; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Rosetrees Trust; University College London; Ataxia UK; Brain Research UK; Muscular Dystrophy Association; Presbyterian Health Foundation","keywords":"Exome sequencing; Biology; Genetics; HEK 293 cells; Drosophila melanogaster; In silico; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00048798,0.0002857863,0.0003598275,0.000123652,0.0001719454,0.00001646165,0.0003200138,0.00006951364,0.00006361888],"category_scores_gemma":[0.000110235,0.0002729659,0.00002954783,0.0004215114,0.0001835339,0.000005485012,0.001271531,0.0002154971,0.000002556767],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001101957,"about_ca_system_score_gemma":0.0001093504,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003048217,"about_ca_topic_score_gemma":0.0004965304,"domain_scores_codex":[0.9977231,0.0001613277,0.0004862815,0.0006039677,0.0004399335,0.0005854011],"domain_scores_gemma":[0.9995441,0.00001935775,0.00006559521,0.0001771119,0.00003339322,0.0001604807],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004038171,0.0002780322,0.09975449,0.00005281158,0.0001012631,0.00007048973,0.0007741394,0.00009152844,0.8860948,0.00002290122,0.0006969104,0.01165878],"study_design_scores_gemma":[0.02769019,0.004124431,0.350205,0.0002172699,0.0001068219,0.0004248137,0.01403118,0.001181443,0.2923937,0.0006735278,0.3055222,0.003429456],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9854813,0.01234322,0.0002569651,0.0008635406,0.000123555,0.0006306335,0.0001305939,0.000008870023,0.0001613035],"genre_scores_gemma":[0.9903468,0.005740903,0.001175322,0.001766969,0.00007275535,0.0004652076,0.0002566728,0.00002430848,0.0001510955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5937011,"threshold_uncertainty_score":0.9999722,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01439141367823615,"score_gpt":0.2737417843452009,"score_spread":0.2593503706669647,"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."}}