Celia Greenwood: Multiple testing and region-based tests of rare genetic variation
Celia Greenwood · Feb 8, 2013
Date: 2013-02-08
Time: 14:30-15:30
Location: BURN 1205
Abstract:
In the context of univariate association tests between a trait of interest and common genetic variants (SNPs) across the whole genome, corrections for multiple testing have been well-studied. Due to the patterns of correlation (i.e. linkage disequilibrium), the number of independent tests remains close to 1 million, even when many more common genetic markers are available. With the advent of the DNA sequencing era, however, newly-identified genetic variants tend to be rare or even unique, and consequently single-variant tests of association have little power. As a result, region-based tests of association are being developed that examine associations between the trait and all the genetic variability in a small pre-defined region of the genome. However, coping with multiple testing in this situation has had little attention. I will discuss two aspects of multiple testing for region-based tests. First, I will describe a method for estimating the effective number of independent tests, and second, I will discuss an approach for controlling type I error that is based stratified false discovery rates, where strata are defined by external information such as genomic annotation.