Advances in genetics are coming at a breathtaking pace, but our ability to utilize this information clinically remains a significant limitation of genomic medicine

To this end, I am leading one of the groups involved in a consortium effort called the “Clinical Genomics Resource (ClinGen)” that includes two NHGRI-funded U01 projects, an NHGRI-funded U41 project, and the NCBI’s ClinVar database.  The overall goal of this consortium is to develop a publicly available knowledge-base of clinically-relevant genes and genetic variants, in order to facilitate the deployment of clinical genomics.