Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

ABSTRACT: It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene¹. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches^2-5. For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases^6-8. This includes muscle biopsies from patients with undiagnosed rare muscle disorders^6,9, and cultured fibroblasts from patients with mitochondrial disorders⁷. However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a dia

SUBMITTER: Fresard L 

PROVIDER: S-EPMC6634302 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature