NEW TOOL SIMPLIFIES GENOMIC RESEARCH AND BOOSTS MEDICAL BREAKTHROUGHS

A University of Virginia School of Medicine scientist and collaborators have developed a much-needed new tool to increase the efficiency of genomic research and accelerate the development of new ways to improve human health.

UVA researcher Nathan Sheffield, PhD, has spent four years developing a new data standard to ensure that scientists are comparing apples to apples when doing genomic analysis. This type of analysis helps researchers understand the operating instructions for our cells and see how those instructions are carried out. The resulting insights help us understand the workings of both healthy cells and unhealthy ones, pointing us to new ways to treat and prevent disease.

Genomics is a complex field that involves analyzing vast amounts of data. This work is complicated by the number of researchers involved and the varying ways they have named "reference sequences" over the years. Reference sequences are essential tools in genomic research, often representing genetic information compiled from multiple individuals. Researchers rely on these sequences to identify gene variations driving genetic diseases and to understand how diseased cells behave differently than normal cells.

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2025-04-17T03:06:47Z