摘要全基因组关联分析(genome-wide association study, GWAS)是研究复杂性状和疾病遗传变异的有效方法,其核心是研究分子变异和目标表型性状之间的关联。尤其是近几年来随着高通量测序和高分辨的代谢检测技术的不断发展,以及多种生物信息学技术和统计学方法发展,这些为复杂性状致因变异的精细定位提供基础。本综述将在全基因组关联分析的基础上,介绍GWAS在基因组、代谢组和转录组方面的应用及研究进展,包括基于单倍型的GWAS、代谢组的GWAS、基因表达的GWAS,并对GWAS未来的发展进行了展望。
Abstract：Genome-wide association study (GWAS) is an effective way to study the relationship between genetic variation and complex traits or diseases. The idea of GWAS is to find the correlation between molecular variation and target phenotype. With the development of the high-throughput, and the improvement of bioinformatics and statistical methods, it promotes researches on fine mapping of complex traits. On the basis of genome-wide association study, this review introduces the research progress of GWAS on genome, metabolomics as well as proteome, including haplotype-based GWAS, metabolic GWAS and gene expression-based GWAS. We finally make a prospect for GWAS study in the future.
卜李那, 赵毅强. 全基因组关联分析及其扩展方法的研究进展[J]. 农业生物技术学报, 2019, 27(1): 150-158.
BU Li-Na, ZHAO Yi-Qiang. Research Progress of Genome-wide Association Study and Its Extension Methods. 农业生物技术学报, 2019, 27(1): 150-158.
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