Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

ABSTRACT:

Purpose

We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications.

Methods

From 234 subjects referred to the Undiagnosed Diseases Network, University of California-Los Angeles clinical site between July 2014 and August 2018, 113 were enrolled for high likelihood of having rare undiagnosed, suspected genetic conditions despite thorough prior clinical evaluation. Exome or genome sequencing and RNAseq were performed, and RNAseq data was integrated with genome sequencing data for DNA variant interpretation genome-wide.

Results

The molecular diagnostic rate

SUBMITTER: Lee H 

PROVIDER: S-EPMC7405636 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature