A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from...
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data
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Publisher
England: Oxford University Press
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Language
English
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Publisher
England: Oxford University Press
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Abstract
Mitochondrial diseases are a heterogeneous group of disorders that can be caused by mutations in the nuclear or mitochondrial genome. Mitochondrial DNA (mtDNA) variants may exist in a state of heteroplasmy, where a percentage of DNA molecules harbor a variant, or homoplasmy, where all DNA molecules have the same variant. The relative qu...
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Full title
A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9112767
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9112767
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ISSN
2631-9268
E-ISSN
2631-9268
DOI
10.1093/nargab/lqac034
