Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers.

ABSTRACT:

Background

Genome-wide association studies have revealed that rare variants are responsible for a large portion of the heritability of some complex human diseases. This highlights the increasing importance of detecting and screening for rare variants. Although the massively parallel sequencing technologies have greatly reduced the cost of DNA sequencing, the identification of rare variant carriers by large-scale re-sequencing remains prohibitively expensive because of the huge challenge of constructing libraries for thousands of samples. Recently, several studies have reported that techniques from group testing theory and compressed sensing could help identify rare variant carriers in large-scale samples with few pooled sequencing experiments and a dramatically reduced cost.

Res

SUBMITTER: Cao CC 

PROVIDER: S-EPMC4229885 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature