Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq.

ABSTRACT: The development of molecular tools to detect and report mitochondrial DNA (mtDNA) heteroplasmy will increase the discrimination potential of the testing method when applied to forensic cases. The inherent limitations of the current state-of-the-art, Sanger-based sequencing, including constrictions in speed, throughput, and resolution, have hindered progress in this area. With the advent of next-generation sequencing (NGS) approaches, it is now possible to clearly identify heteroplasmic variants, and at a much lower level than previously possible. However, in order to bring these approaches into forensic laboratories and subsequently as accepted scientific information in a court of law, validated methods will be required to produce and analyze NGS data. We report here on the development of

SUBMITTER: McElhoe JA 

PROVIDER: S-EPMC4580234 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature