The Role of RNA-Sequencing as a New Genetic Diagnosis Tool

Abstract Purpose of Review Whole exome sequencing (WES) and whole-genome (WGS) are frontline approaches for the genetic diagnosis rare diseases. However, WES/WGS fails in up to 75% cases. Transcriptomics via RNA-sequencing (RNA-Seq) is a novel approach that aims increase diagnostic yield Recent Findings publications focus on success RNA-Seq increasing rates WES/WGS-negative patients 36% cases, across range different diseases, sample sizes, tissue types. Summary beneficial aiding prioritisation causative variants currently not detected or often overlooked by alone. An improvement yields has been demonstrated using multiple source tissues, with muscle fibroblasts being most representative, but more accessible blood still demonstrating success, particularly neuromuscular disorders. The introduction toolbox promises be useful complementary tool improving disease.