罕见变异关联分析中的统计方法研究进展

二代测序数据的持续增多以及全基因组关联分析存在着只关注常见变异对表型影响的缺陷,使得研究人员开始考虑罕见变异对表型表达的影响。近年来,涉及罕见变异关联分析的统计方法研究成为一个活跃的领域,大批统计检验方法被相继提出。然而,大多数方法没有得到全面详细的比较和分析。因此,缺乏对现有方法的评价以及对它们如何使用的指导。本文对该领域的一些具有代表性的方法做一全面的综述,并介绍一些最新的研究进展。

Progress in Statistical Methods for Rare Variant Association

The increasing availability of next-generation sequencing (NGS) data and the limitations of genome-wide association studies (GWAS) that focus on the phenotypic influence of common variants have motivated researchers to consider the contribution of rare variants (RVs) to phenotypic expression.Therefore,statistical methods for rare variant association have been an active area of research for the past decade and a good number of association tests for RVs have been proposed.However,most of them have not been fully compared to each other.So there is a lack of evaluations of,and thus guidance on the use of,existing tests.Here we provide a comprehensive review of various statistical methods for analyzing RVs.Some current literature and recent developments in this field are also outlined.