Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

ABSTRACT:

Purpose

Mitochondrial disorders are a common cause of inherited metabolic disease and can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic approach involves the targeted resequencing of mitochondrial DNA and candidate nuclear genes, usually proceeds step by step, and is time consuming and costly. Recent evidence suggests that variations in mitochondrial DNA sequence can be obtained from whole-exome sequence data, raising the possibility of a comprehensive single diagnostic test to detect pathogenic point mutations.

Methods

We compared the mitochondrial DNA sequence derived from off-target exome reads with conventional mitochondrial DNA Sanger sequencing in 46 subjects.

Results

Mitochondrial DNA sequences can be reliably obtained u

SUBMITTER: Griffin HR 

PROVIDER: S-EPMC4272251 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature