Lu Zhang, Jiahui Yin, Haiyang Sun, Wenliang Dong, Zihui Liu, Jiguo Yang, Yuanxiang Liu
The relationship between body roundness index and depression: A cross-sectional study using data from the National Health and Nutrition Examination Survey (NHANES) 2011-2018
Journal of affective disorders
genetic diagnosis mitochondrial disorders complicated genetic phenotypic complexity next generation sequencing techniques much improved diagnostic yield conditions cohort individuals multiple respiratory chain deficiencies reported literature 10 years ago diagnostic rate 60 whole exome sequencing wes 40 remained undiagnosed aimed identify genetic diagnosis reanalysis wes data undiagnosed arm 10yearold cohort patients suspected mitochondrial disorders wes data transferred processed rdconnect genomephenome analysis platform gpap using standardized pipeline variant prioritisation carried rdconnect gpap singleton wes data 14 individuals reanalysed identified possible likely genetic diagnosis 8 patients 814 57 variants identified combination mitochondrial dna n 1 mttn nuclear encoded mitochondrial genes n 2 pdha1 sucla2 nuclear genes associated nonmitochondrial disorders n 5 pnpla2 cdc40 nbas slc7a7 variants nbas cdc40 genes established disease causing original cohort published increased diagnostic yield original cohort 15 without generating genomic data era multiomics highlight reanalysis existing wes data valid tool generating additional diagnosis patients suspected mitochondrial disease particularly time passed allow new bioinformatic pipelines emerge development new tools variant interpretation aiding reclassification variants expansion scientific knowledge additional genes