Researchers have completed a genetic atlas—a collection of genetic studies—documenting the segments of human DNA that influence gene expression—a key way in which a person’s genes give rise to traits such as hair color or disease risk. The availability of this atlas serves as a critical research tool for the scientific community for exploring how genetic differences can be translated into biological differences, like healthy and diseased states, across different tissues and cell types. It could lead to a better understanding of heart disease and many other conditions. Study highlights include an overview of genetic variant-gene expression relationships, a study of rare variants, and an examination of X chromosome inactivation patterns. The studies, which appear in Nature, are partly funded by NHLBI.
Science Daily: Scientists help show links between genes, body tissues