Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes.

ABSTRACT: Next Generation Sequencing Technology has revolutionized our ability to study the contribution of rare genetic variation to heritable traits. However, existing single-marker association tests are underpowered for detecting rare risk variants. A more powerful approach involves pooling methods that combine multiple rare variants from the same gene into a single test statistic. Proposed pooling methods can be limited because they generally assume high-quality genotypes derived from deep-coverage sequencing, which may not be available. In this paper, we consider an intuitive and computationally efficient pooling statistic, the cumulative minor-allele test (CMAT). We assess the performance of the CMAT and other pooling methods on datasets simulated with population genetic models to contain real

SUBMITTER: Zawistowski M 

PROVIDER: S-EPMC2978957 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature