Somatic Mosaicism across Human Tissues

The Somatic Mosaicism across Human Tissues (SMaHT) Network aims to transform our understanding of how somatic mosaicism in human cells influences biology and disease. To realize its goal, the SMaHT Network will systematically document DNA sequence variants within personal genomes by detecting DNA variation in tissues from human donors using state-of-the art sequencing technologies. Somatic mosaicism is challenging to study because low frequency variants are hard to detect, and repetitive regions of DNA are difficult to sequence reliably. The SMaHT Network will spur technological development that will enable researchers to detect different types of variation, including reproductive cell variants and rare mutations. These technological developments will enhance our understanding of how large and small variants contribute to biology and human development.