Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization

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17 Oct 2026 0 comments

Mitochondrial diseases (MD) are the most common inherited metabolic disorders and show marked clinical and genetic heterogeneity. Despite widespread use of whole-exome (WES) and whole-genome sequencing (WGS), nearly half of patients remain without molecular diagnosis, partly due to difficulties in interpreting variants affecting RNA splicing or gene expression. RNA sequencing (RNA-seq) has shown promise in research settings, few studies have evaluated its feasibility in routine clinical...