A high-throughput next-generation sequencing assay for the mitochondrial genome

Shale Dames; Karen Eilbeck; Rong Mao

doi:10.1007/978-1-4939-2257-4_8

A high-throughput next-generation sequencing assay for the mitochondrial genome

Methods Mol Biol. 2015:1264:77-88. doi: 10.1007/978-1-4939-2257-4_8.

Authors

Shale Dames¹, Karen Eilbeck, Rong Mao

Affiliation

¹ ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT, 84108, USA, shale.dames@aruplab.com.

PMID: 25631005
DOI: 10.1007/978-1-4939-2257-4_8

Abstract

Next-generation sequencing (NGS) is an effective method for mitochondrial genome (mtDNA) sequencing and heteroplasmy detection. The following protocol describes an mtDNA enrichment method up to library preparation and sequencing on Illumina NGS platforms. A short command line alignment script is available for download via FTP.

MeSH terms

Computational Biology / methods
DNA, Mitochondrial / chemistry
DNA, Mitochondrial / genetics*
DNA, Mitochondrial / isolation & purification
Genome, Mitochondrial*
High-Throughput Nucleotide Sequencing / methods*
High-Throughput Nucleotide Sequencing / standards
Humans
Sequence Analysis, DNA / methods

Substances

DNA, Mitochondrial