In:
PLOS Genetics, Public Library of Science (PLoS), Vol. 16, No. 12 ( 2020-12-14), p. e1009242-
Abstract:
Deletions and duplications in mitochondrial DNA (mtDNA) cause mitochondrial disease and accumulate in conditions such as cancer and age-related disorders, but validated high-throughput methodology that can readily detect and discriminate between these two types of events is lacking. Here we establish a computational method, MitoSAlt, for accurate identification, quantification and visualization of mtDNA deletions and duplications from genomic sequencing data. Our method was tested on simulated sequencing reads and human patient samples with single deletions and duplications to verify its accuracy. Application to mouse models of mtDNA maintenance disease demonstrated the ability to detect deletions and duplications even at low levels of heteroplasmy.
Type of Medium:
Online Resource
ISSN:
1553-7404
DOI:
10.1371/journal.pgen.1009242
DOI:
10.1371/journal.pgen.1009242.g001
DOI:
10.1371/journal.pgen.1009242.g002
DOI:
10.1371/journal.pgen.1009242.g003
DOI:
10.1371/journal.pgen.1009242.g004
DOI:
10.1371/journal.pgen.1009242.s001
DOI:
10.1371/journal.pgen.1009242.s002
DOI:
10.1371/journal.pgen.1009242.s003
DOI:
10.1371/journal.pgen.1009242.s004
DOI:
10.1371/journal.pgen.1009242.s005
DOI:
10.1371/journal.pgen.1009242.r001
DOI:
10.1371/journal.pgen.1009242.r002
DOI:
10.1371/journal.pgen.1009242.r003
DOI:
10.1371/journal.pgen.1009242.r004
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2020
detail.hit.zdb_id:
2186725-2
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