CAJ | 학술논문

全基因组关联研究（GWAS）已经发现了众多与复杂性疾病和性状相关的遗传位点，但绝大部分位点的生物学功能尚不明确。基因组功能注释显示这些位点可能主要影响基因组调控区的功能，表达数量性状位点（eQTL）分析、染色质构象捕获技术、基因组编辑技术CRISPR/Cas9等方法的应用，以及非编码RNA和低频遗传变异等方面的研究，有望促进这些遗传位点的功能解析，为GWAS成果的转化应用奠定基础。
전기인조관련연구（GWAS）이경발현료음다여복잡성질병화성상상관적유전위점，단절대부분위점적생물학공능상불명학。기인조공능주석현시저사위점가능주요영향기인조조공구적공능，표체수량성상위점（eQTL）분석、염색질구상포획기술、기인조편집기술CRISPR/Cas9등방법적응용，이급비편마RNA화저빈유전변이등방면적연구，유망촉진저사유전위점적공능해석，위GWAS성과적전화응용전정기출。
Genome-wide association studies (GWAS) have identified thousands of genetic loci associated with complex diseases or traits. However, the exact biological functions of these loci are largely unknown. Recent functional annotation indicates that the majority of disease/trait associated loci are concentrated in regulatory DNA of human genome. Expression quantitative trait loci (eQTL) analyses, chromosome conformation capture related methods and genome editing methods (such as CRISPR/Cas9) may facilitate the functional study of these loci. Research on noncoding RNAs and rare variants may improve the functional understanding. These efforts may promise translation of GWAS findings to clinical practices.