Diversity prioritized in human pangenome reference

May 10, 2023

Diversity prioritized in human pangenome reference

New research published May 10 from the Human Pangenome Reference Consortium reflects efforts to create a reference collection of human genome assemblies that better represents the diversity of people from around the world.

“This pangenome reference, which actually includes multiple human genomes of diverse origin, will help us and other scientists as well as clinicians to actually better diagnose and treat diseases in the future,” said David Porubsky, an acting instructor in genome sciences in Evan Eichler’s Lab at UW Medicine.

Video: David Porubsky on contributing to the human pangenome reference

“Getting a more complete understanding of how we differ and potentially how that impacts our phenotypes is very important and easy to motivate,” said Mitchell Vollger, a postdoctoral fellow in the UW Medicine Stergachis Lab who formerly conducted research for this project in the Eichler Lab. “I think it's absolutely critical that that we continue to push this resource and that the community begins to adopt it.”

Learn more about the new genomic reference collection, UW Medicine contributions to that effort and work underway at the UW School of Medicine Department of Genome Sciences in analyzing it in our news release.

Download broadcast-ready soundbites featuring Porubsky and Vollger describing their contributions to the collection, and to analyzing gaps and variants in the assemblies. 

Below video: Mitchell Vollger's experience working with the human pangenome reference

Randy Carnell, UW Medicine

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