Washington University Researchers Establish Best Methods for Measuring Genetic Variation Within the Body
Researchers at Washington University School of Medicine in St. Louis have successfully verified the accuracy of genetic tools designed to identify rare DNA changes, known as somatic mosaicism, that occur within an individual's cells over time. These variations, which create genetic differences between tissues, are crucial for understanding aging and disease, particularly cancer risk. The research is part of the Somatic Mosaicism across Human Tissues (SMaHT) Network, an NIH-supported national effort. Principal investigator Ting Wang, PhD, leads the national organizing center for this network. The studies, published in Cell and Cell Genomics, confirm that combining bulk sequencing, single-cell sequencing, and duplex sequencing provides the most comprehensive picture of mosaicism within tissues. This breakthrough allows scientists to accurately identify these rare DNA changes, which were previously difficult to measure.