Detection and quantification of mitochondrial DNA deletions from next-generation sequence data.

ABSTRACT:

Background

Chromosomal deletions represent an important class of human genetic variation. Various methods have been developed to mine "next-generation" sequencing (NGS) data to detect deletions and quantify their clonal abundances. These methods have focused almost exclusively on the nuclear genome, ignoring the mitochondrial chromosome (mtDNA). Detecting mtDNA deletions requires special care. First, the chromosome's relatively small size (16,569 bp) necessitates the ability to detect extremely focal events. Second, the chromosome can be present at thousands of copies in a single cell (in contrast to two copies of nuclear chromosomes), and mtDNA deletions may be present on only a very small percentage of chromosomes. Here we present a method, termed MitoDel, to detect mtDNA deletio

SUBMITTER: Bosworth CM 

PROVIDER: S-EPMC5657046 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature