New Tool Makes Genomic Research Better

Scientists, including two University of Virginia researchers, have developed a powerful, inclusive new tool for genomic research that boosts efforts to develop more precise treatments for many diseases by leveraging a better representation of the genetic diversity of people around the world.

The new software tool, called “Giraffe,” enables the use of a reference point that is far more diverse and inclusive. Instead of relying on a single reference genome, Giraffe uses a “pangenome” that incorporates information about genome sequences from people around the world. This will give scientists a much more global perspective and help them understand why diseases often strike certain groups disproportionately.

“A major advantage of Giraffe is that it enables fast and sensitive comparison of short-read human genome sequences to a pangenome, which is essential for the widespread use of reference graphs that reduce bias in the human genome reference,” said researcher Stephen S. Rich of the UVA School of Medicine’s Center for Public Health Genomics.

To read full story, click here.

Photo (Illustration by Meredith Michael Smith, University Communications) and story Josh Barney