Coverage tradeoffs and power estimation in the design of whole-genome sequencing experiments for detecting association.

ABSTRACT:

Motivation

Whole-genome sequencing (WGS) allows direct interrogation of previously undetected uncommon or rare variants, which potentially contribute to the missing heritability of human disease. However, cost of sequencing large numbers of samples limits its application in case-control association studies. Here, we describe theoretical and empirical design considerations for such sequencing studies, aimed at maximizing the power of detecting association under the constraint of study-wide cost.

Results

We consider two cost regimes. First, assuming cost is proportional to the total amount of base pairs to be sequenced across all samples, which is a practical model for whole-genome sequencing, we explored the tradeoff in terms of study power between increasing the number of su

SUBMITTER: Shen Y 

PROVIDER: S-EPMC3129526 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature