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Article

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

BMC bioinformatics - 16 Oct 2017

Bosworth Colleen M, Grandhi Sneha, Gould Meetha P, LaFramboise Thomas

Abstract excerpt

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...

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Identifiers

PMID: 29072135
DOI: 10.1186/s12859-017-1821-7
PMCID: PMC5657046

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