Open AccessA bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data
Author(s) -
Stephanie L. Battle,
Daniela Puiu,
Joost Verlouw,
Linda Broer,
Eric Boerwinkle,
Kent D. Taylor,
Jerome I. Rotter,
S.S Rich,
Megan L. Grove,
Nathan Pankratz,
Jessica L. Fetterman,
Chunyu Liu,
Dan E. Arking
Publication year - 2022
Publication title -
nar genomics and bioinformatics
Language(s) - English
Resource type - Journals
ISSN - 2631-9268
DOI - 10.1093/nargab/lqac034
Subject(s) - heteroplasmy , mitochondrial dna , biology , genetics , genome , computational biology , dna sequencing , human mitochondrial genetics , mitochondrial disease , dna , gene
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