畜牧兽医学报2017，Vol.48Issue(7)：1173-1180,8.DOI:10.11843/j.issn.0366-6964.2017.07.001
稀有变异关联分析研究进展及其在畜禽中的应用展望
Study Progress on Rare Variants Association Studies and Its Application in Livestock
摘要
Abstract
Genome-wide association studies have identified thousands of associations between common variants and common diseases(traits) in the last decade.Despite these discoveries,the missing heritability has attracted much concerns increasingly.Rare variants have become a key answer to explain the missing heritability,because GWAS focus on identifying the associations between common variants and phenotypes.The rapid advances in DNA sequence have made it possible to identify the associations between rare variants and common diseases(traits).A series of rare variants association analysis(RVAS) methods have been proposed and were applicated to many human diseases,however fewer investigations in livestock.In this review,we first briefly report the methods of sequence kernel association test(SKAT) and its family,which are representative.Then,we summary two methods which are used to improve the effectiveness in RVAS:extreme phenotype sampling and meta-analysis.Hereafter,we review the methods utilizing GWAS data to perform RVAS:imputation and rare haplotype associations analysis.Finally,we provide some guidelines for performing RVAS in livestock.关键词
稀有变异关联分析/极端表型抽样/荟萃分析/基因型填充/稀有单倍型Key words
RVAS/extreme phenotype sample/meta-analysis/imputation/rare haplotype分类
农业科技引用本文复制引用
苗健,常天鹏,史新平,夏江威,高会江,李俊雅..稀有变异关联分析研究进展及其在畜禽中的应用展望[J].畜牧兽医学报,2017,48(7):1173-1180,8.基金项目
国家自然科学基金(31472079) （31472079）
