{"id":"W4318016607","doi":"10.1212/nxg.0000000000200048","title":"Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy","year":2023,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Coenzyme Q10 studies and effects","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"Genome Alberta; Canada Research Chairs; Genome British Columbia; Muscular Dystrophy Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; University of Ottawa","keywords":"Exome sequencing; Muscle biopsy; Compound heterozygosity; Biology; Coenzyme Q10; Carnitine; Internal medicine; Methionine; Muscle atrophy; Hydroxylation; Atrophy; Amino acid; Endocrinology; Medicine; Pathology; Genetics; Biochemistry; Biopsy; Gene; Enzyme; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0001934423,0.0002250058,0.0002315234,0.0001848869,0.000050907,0.00001173554,0.0002323124,0.0001994748,0.000003676438],"category_scores_gemma":[0.00007447109,0.000213564,0.0000475581,0.000525535,0.0001044368,0.000002354408,0.0002794369,0.0002678591,0.00002154056],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000620586,"about_ca_system_score_gemma":0.00005978425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006879012,"about_ca_topic_score_gemma":0.001053045,"domain_scores_codex":[0.9984204,0.00008943083,0.000249677,0.0005741329,0.0001270385,0.0005392742],"domain_scores_gemma":[0.9993925,0.00005474177,0.00005573353,0.0003861177,0.00003837037,0.00007250429],"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":[0.002156563,0.0006517172,0.1106807,0.0001099905,0.00007963884,0.01145733,0.0003774317,0.02103204,0.8232487,0.00004471614,0.02795943,0.00220169],"study_design_scores_gemma":[0.009626207,0.01289611,0.8557677,0.00004647177,0.00006460641,0.003343028,0.0001419691,0.01174101,0.01821891,0.0001077343,0.08663335,0.001412851],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974738,0.0005974289,0.0001156199,0.0009138248,0.0003970753,0.0002907045,0.00002259985,0.00003225851,0.0001566283],"genre_scores_gemma":[0.9960714,0.0008677801,0.0002189751,0.002282366,0.0002964294,0.00006128741,0.00003967901,0.00005228345,0.0001098259],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8050299,"threshold_uncertainty_score":0.8708886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007995975143190346,"score_gpt":0.2161066229760286,"score_spread":0.2081106478328383,"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."}}