Analysis and optimal design for association studies using next-generation sequencing with case-control pools.

ABSTRACT: With its potential to discover a much greater amount of genetic variation, next-generation sequencing is fast becoming an emergent tool for genetic association studies. However, the cost of sequencing all individuals in a large-scale population study is still high in comparison to most alternative genotyping options. While the ability to identify individual-level data is lost (without bar-coding), sequencing pooled samples can substantially lower costs without compromising the power to detect significant associations. We propose a hierarchical Bayesian model that estimates the association of each variant using pools of cases and controls, accounting for the variation in read depth across pools and sequencing error. To investigate the performance of our method across a range of number of po

SUBMITTER: Liang WE 

PROVIDER: S-EPMC4139478 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature