Detecting the Invisible: New Technique Reveals Earliest Signs of Genetic Mutations

HiDEF-seq, a groundbreaking technique from NYU Langone Health, identifies early DNA changes that precede mutations, enhancing understanding of genetic disorders and aging.

Mutations are alterations in the molecular “letters” that compose the DNA code, which serves as the blueprint for all living cells. While some of these changes have minimal impact, others can result in diseases, such as cancer. A recent study has introduced a novel technique, called HiDEF-seq, which can precisely detect the early molecular changes in the DNA code that occur before mutations.

The study authors say their technique — HiDEF-seq, short for Hairpin Duplex Enhanced Fidelity Sequencing — could advance our understanding of the basic causes of mutations, in both healthy cells and in cancer, and how genetic changes naturally accumulate in human cells as people age.