Combined genotype and haplotype tests for region-based association studies.

ABSTRACT:

Background

Although single-SNP analysis has proven to be useful in identifying many disease-associated loci, region-based analysis has several advantages. Empirically, it has been shown that region-based genotype and haplotype approaches may possess much higher power than single-SNP statistical tests. Both high quality haplotypes and genotypes may be available for analysis given the development of next generation sequencing technologies and haplotype assembly algorithms.

Results

As generally it is unknown whether genotypes or haplotypes are more relevant for identifying an association, we propose to use both of them with the purpose of preserving high power under both genotype and haplotype disease scenarios. We suggest two approaches for a combined association test and inve

SUBMITTER: Zakharov S 

PROVIDER: S-EPMC3852120 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature