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

Redouane Aherrahrou; Minna U Kaikkonen

doi:10.1002/1873-3468.14884

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

FEBS Lett. 2024 Apr 29. doi: 10.1002/1873-3468.14884. Online ahead of print.

Authors

Redouane Aherrahrou^{1

2

3}, Minna U Kaikkonen¹

Affiliations

¹ A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Finland.
² Institute for Cardiogenetics, Universität zu Lübeck; DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Germany.
³ University Heart Centre Lübeck, 23562, Lübeck, Germany.

PMID: 38683017
DOI: 10.1002/1873-3468.14884

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.

Keywords: CRISPR; GWAS; MPRA; QTL; eQTL; functional genomics; molQTL; single cell sequencing.

Publication types

Review