[This] is a step toward realizing the goal of personal genomics.”
— The Whiting School of Engineering’s Alexis Battle, assistant professor of biomedical engineering, whose lab conducted research analysis for the most expansive study ever conducted on how genetic patterns lead to molecular changes within specific tissues. The results, reported in two related articles in Nature, could help show how individual genetic differences contribute to disease and guide treatments for heritable disorders, such as Alzheimer’s, high cholesterol, or type 1 diabetes. One article shows results analyzing the genome-to-tissue link for genetic variants that are common in humans, and the other turns to the more challenging problem of predicting the effects of rare variants that are found in very few individuals, or even in just a single individual.