[Family-based association tests for rare variants]

Zhonghua Liu Xing Bing Xue Za Zhi. 2022 Sep 10;43(9):1497-1502. doi: 10.3760/cma.j.cn112338-20211224-01013.
[Article in Chinese]


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.


MeSH terms

  • Computer Simulation
  • Family Relations
  • Genetic Association Studies
  • Genetic Variation*
  • Genome-Wide Association Study* / methods
  • Humans