- VernacularTitle:基于家系数据的罕见变异关联分析方法研究进展
- Author:
Xi CHEN
1
;
Si Yue WANG
1
;
En Ci XUE
1
;
Xue Heng WANG
1
;
He Xiang PENG
1
;
Meng FAN
1
;
Meng Ying WANG
1
;
Yi Qun WU
1
;
Xue Ying QIN
1
;
Jin LI
1
;
Tao WU
1
;
Hong Ping ZHU
2
;
Jing LI
3
;
Zhi Bo ZHOU
2
;
Da Fang CHEN
1
;
Yonghua HU
1
Author Information
- Publication Type:Journal Article
- MeSH: Computer Simulation; Family Relations; Genetic Association Studies; Genetic Variation; Genome-Wide Association Study/methods*; Humans
- From: Chinese Journal of Epidemiology 2022;43(9):1497-1502
- CountryChina
- Language:Chinese
- Abstract: 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.