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.
摘要:
全基因组关联研究(GWAS)极大地促进了我们对疾病遗传基础的理解。然而,挑战依然存在,特别是在解释影响疾病相关细胞基因的连锁不平衡中的非编码变体时。解决关键障碍——识别因果变异,发现目标基因,了解他们的网络影响是至关重要的。这个图形审查导航先进的技术,充分利用GWAS未来的治疗突破。