Rare variant association analysis: Beyond collapsing approaches

Abstract

In Chap. 13 we discussed rare variant tests which combine genotypes of multiple rare variants, known as the collapsing approaches. However, these tests may be underpowered in certain scenarios, and approaches that do not directly collapse genotypes of multiple rare variants have been proposed. In this chapter, we describe several non-collapsing approaches, summarize their common and unique features, and discuss their pros and cons.