Next-generation sequencing has revolutionized family-based association tests for rare variants. As the lower power of genome wide association study for detecting casual rare variants, methods aggregating effects of multiple variants have been proposed, such as burden tests and variance component tests. This paper summarizes the methods of rare variants association test that can be applied for family data, introduces their principles, characteristics and applicable conditions and discusses the shortcomings and the improvement of the present methods.
二代测序技术的发展促进了复杂疾病致病性罕见遗传变异的研究。罕见变异的低频性使得单位点关联分析功效不足，因此负荷检验、方差成分检验等整合多个位点信息的关联分析方法得到了广泛应用。但这些方法大多基于人群研究设计，针对家系数据的分析方法较为少见。本文综述了基于家系数据的常用罕见变异关联分析方法，介绍基本原理和特点、适用条件等，并讨论了当前分析方法存在的不足和未来发展的方向。.