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Researchers establish best methods to measure genetic variation within the body

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Researchers establish best methods to measure genetic variation within the body

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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.

Researchers at Washington University School of Medicine in St. Louis are leading national efforts to investigate small DNA changes over time that create genetic differences between tissues within the same person. Called somatic mosaicism, these variations alter how cells operate and play a critical role in aging and disease—especially cancer risk—across the life span.

Despite their importance, such DNA changes are rare and difficult to measure. Now, a package of papers demonstrates new strategies to accurately measure and assess the significance of these types of DNA changes across multiple tissue types. WashU Medicine investigators led three of these studies, one published in Cell and two in Cell Genomics.

The research is part of the Somatic Mosaicism across Human Tissues (SMaHT) Network. , the Sanford C. and Karen P. Loewentheil Distinguished Professor of Medicine and head of the James S. McDonnell Department of Genetics. WashU Medicine is also the largest of five data production centers, also led by Wang, contributing more than 25% of all the data produced by the network since it launched in 2023.



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