Researchers establish best methods to measure genetic variation within the body
WashU Medicine researchers have verified the accuracy of genetics tools to correctly identify all the rare DNA changes that make up an individual's genomic mosaic, paving the way to understanding these variants' impact on health and disease.
WashU Medicine researchers have confirmed the precision of genetics tools for accurately identifying rare DNA changes that create genetic differences within a single person's body. These alterations, known as somatic mosaicism, influence how cells function and contribute to aging and disease, particularly cancer risk. Despite their significance, measuring and evaluating these genetic variations is challenging due to their rarity and complexity.
Three studies led by Washington University School of Medicine in St. Louis, part of the Somatic Mosaicism across Human Tissues (SMaHT) Network, now demonstrate novel strategies to precisely quantify and evaluate the importance of these genetic changes across various tissue types. Principal investigator Ting Wang, Ph.D., spearheads the national initiative, with the university serving as the organizing center and largest data production hub.
The genome, typically considered identical across cells, is actually far more intricate, with distinct changes accumulating in various cells over time. Although many somatic mutations are harmless, they can also be linked to diseases like cancer. Researchers have developed three complementary sequencing strategies—bulk sequencing, single-cell sequencing, and duplex sequencing—to provide a comprehensive understanding of somatic variation.
With the methods validated, the team now aims to analyze samples from 150 diverse donors across different life stages.
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