Estimating allele frequency from next-generation sequencing of pooled mitochondrial DNA samples.

ABSTRACT:

Background

Both common and rare mitochondrial DNA (mtDNA) variants may contribute to genetic susceptibility to some complex human diseases. Understanding of the role of mtDNA variants will provide valuable insights into the etiology of these diseases. However, to date, there have not been any large-scale, genome-wide association studies of complete mtDNA variants and disease risk. One reason for this might be the substantial cost of sequencing the large number of samples required for genetic epidemiology studies. Next-generation sequencing of pooled mtDNA samples will dramatically reduce the cost of such studies and may represent an appealing approach for large-scale genetic epidemiology studies. However, the performance of the different designs of sequencing pooled mtDNA has not b

SUBMITTER: Wang T 

PROVIDER: S-EPMC3268604 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature