Detecting associations of rare variants with common diseases: collapsing or haplotyping?

ABSTRACT: In recent years, a myriad of new statistical methods have been proposed for detecting associations of rare single-nucleotide variants (SNVs) with common diseases. These methods can be generally classified as 'collapsing' or 'haplotyping' based. The former is the predominant class, composed of most of the rare variant association methods proposed to date. However, recent works have suggested that haplotyping-based methods may offer advantages and can even be more powerful than collapsing methods in certain situations. In this article, we review and compare collapsing- versus haplotyping-based methods/software in terms of both power and type I error. For collapsing methods, we consider three approaches: Combined Multivariate and Collapsing, Sequence Kernel Association Test and Family-Based A

SUBMITTER: Wang M 

PROVIDER: S-EPMC4570202 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature