Translating genome-wide association studies at multiple scales: Drug target prioritisation, cellular architectures and organ imaging

Abstract

With a vast corpus of findings from nearly two decades of genome-wide association studies (GWAS), many studies now focus on translating these genetic associations into biological insights at multiple scales, from proteins and cells to entire organs. This approach will help to build the foundation for the next generation of treatments. In this review, we highlight key recent studies which have informed target prioritisation and drug repurposing, linked genetic variants to gene regulation in cellular contexts, and uncovered the genetic architecture of organ structure and function. Nearly 25 years since the initial draft of the human genome, it is clear that genomics is driving tangible advances in therapies and opening new ways to understand multi-scale biology.