Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

ABSTRACT:

Background

Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. However, collection of additional biopsies and establishment of lab workflows, analytical pipelines, and defined concepts in clinical interpretation of aberrant gene expression are still needed for adopting RNA sequencing (RNA-seq) in routine diagnostics.

Methods

We implemented an automated RNA-seq protocol and a computational workflow with which we analyzed skin fibroblasts of 303 individuals with a suspected mitochondrial disease

SUBMITTER: Yepez VA 

PROVIDER: S-EPMC8981716 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature