UW Medicine genome experts made significant scientific contributions to a National Institutes of Health Human Genome Research Institute reference collection that better represents the genetic diversity of the world’s populations.
Called the Human Pangenome Reference Consortium, the multi-institutional effort expands and updates earlier work that started as the Human Genome Project. In addition to collaborating with many others on the overall pangenome, scientists in the Department of Genome Sciences at the University School of Medicine also made specific contributions in uncovering new variants and learning how these occurred through genes copying to new locations. In addition, they sought out remaining gaps in human genome reference assemblies and ways to obtain the missing information. Much of their work was done with Evan Eichler, a noted expert on the evolution of the human genome, and on identifying and sequencing normal and disease-causing structural variations, including th
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