Meet Our Researchers

Fabio Cunial

Senior Computational Scientist II, Data Sciences Platform at the Broad Institute
Project Description

"Our goal is to understand how DNA sequence affects its structure—and therefore, its function—in human tissues."

The Question

How do the genetic changes that accumulate in our cells over time influence tissue function? While our cells share the same DNA blueprint, they acquire mutations (like deletions or additions of DNA) throughout our lives. These acquired mutations, known as somatic variation, may help explain how cells form tissues and how tissues function in organs. Fabio will probe how somatic variations affect DNA organization inside the cell’s nucleus. This organization—which involves DNA being bound to and packaged by proteins inside the nucleus—dictates which genes are accessible, how a cell behaves, and ultimately, how a tissue functions.

The Approach

Fabio will use an emerging “long-read” sequencing technology, called DAF-seq, to read DNA sequences from cells and analyze their protein-packaging. Unlike traditional “short-read" methods that capture DNA in small fragments, long-read sequencing reads much longer stretches of DNA and enables detection of both small and large variations, even in complex or repetitive regions of the genome. Fabio aims to identify the fundamental mechanisms by which large-scale genetic changes affect DNA organization inside a cell. Understanding these mechanisms will offer a clearer view of how somatic variation impacts the function and health of human tissues over a lifetime.