Sunday, April 20, 2025

Genome-Wide Association Studies (20 years of research)


Nature news has this interesting piece on genome-wide association studies for disease, a sample:

Twenty years ago, Klein et al.1 published a landmark paper in Science, describing one of the first genome-wide association studies (GWAS). This genomics approach has transformed scientists’ ability to identify relationships between a person’s genetic background (genotype) and their characteristics (phenotype), particularly in the context of disease.

Complex diseases — such as diabetes, arthritis, cancer and dementia — pose a huge public-health burden and are caused by the interplay between genetic and environmental factors. Understanding the genetic architecture of complex diseases can help scientists to figure out the biological processes that lead to these conditions, pinpoint the tissues that are involved, find drug targets and treatments and identify groups of individuals with similar disease risk profiles for tailored interventions.

Cheers, 

Colin