A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

ABSTRACT: The advent of massive parallel sequencing (MPS) has revolutionized the field of human molecular genetics, including the diagnostic study of mitochondrial (mt) DNA dysfunction. The analysis of the complete mitochondrial genome using MPS platforms is now common and will soon outrun conventional sequencing. However, the development of a robust and reliable protocol is rather challenging. A previous pilot study for the re-sequencing of human mtDNA revealed an uneven coverage, affecting predominantly part of the plus strand. In an attempt to address this problem, we undertook a comparative study of standard and modified protocols for the Ion Torrent PGM system. We could not improve strand representation by altering the recommended shearing methodology of the standard workflow or omitting the DN

SUBMITTER: Vancampenhout K 

PROVIDER: S-EPMC4226615 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature