2022 Silver Medal Award

The group is recognized for leading two international teams that contributed to mapping the first-ever complete human reference genome, uncovering new variants in more than 100 genes and enabling new insights into how variants in DNA can impact disease risk. The group discovered novel approaches to fix errors in the previous reference genome and developed highly accurate benchmarks for clinically relevant genes. This improves human genome sequencing; provides significant improvements in the sequencing of challenging genes; and enables discoveries in previously inaccessible genes to support precision medicine.