Technological advancements in functional interpretation of genome-wide association studies (GWAS) findings: bridging the gap to clinical translation

基因组关联研究(GWAS)结果功能解读的技术进步:弥合与临床转化之间的差距

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Abstract

Genome-wide association studies (GWAS) significantly advanced our understanding of the genetic underpinnings of diseases. However, challenges persist, particularly in interpreting non-coding variants in linkage disequilibrium that affect genes in disease-relevant cells. Addressing key obstacles-identifying causal variants, uncovering target genes, and understanding their network impact-is crucial. This graphical review navigates advanced techniques to fully leverage GWAS for future therapeutic breakthroughs.

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