人類遺伝学と発生学

Literature Reviews on Methods for Rare Variant Association Studies

Abstract

Shurong Fang, Shuanglin Zhang and Qiuying Sha

The widespread availability of genome sequencing data has yielded different rare variant association methods in population-based or family-based designs. However, it is challenging to know which method is appropriate in practice. Our purpose of this paper is to provide a general review of the literature for rare variant association studies and suggestions on future research directions. This paper discusses methods for recent rare variant association studies in three categories. The first two categories are for population-based designs, with/without considering the direction of the effects of causal rare variants. In the third category, methods for family-based designs are concluded.