Friday was my last day at NHGRI. After 10 wonderful years, my lab is headed one hour north on I-95 to set up shop at Johns Hopkins University. This is a very bittersweet move for me, as NHGRI has provided an incredibly supportive environment for my research, both in terms of colleagues and resources, and it’s hard to say goodbye. However, I am excited for the opportunity to tackle some new challenges at JHU.

In honor of ASHG week, see “Choose your human genome reference wisely” (no paywall), in which Vivien Marx interviewed me on the state of the human reference genome. Vivien is always fun to chat with and I was in a slightly opinionated mood from the start — “The idea of a single reference genome is outdated,” says NIH researcher Adam Phillippy. Some of my other quotes follow with a little added context.

🚂 The T2T train keeps rolling. Our latest work investigating the structure and cause of Robertsonian chromosomes with the Gerton and Garrison labs is out today in the journal Nature! What’s a Robertsonian chromosome and why do they matter? More info below the break…

We are delighted to finally announce a preprint describing the Q100 project, where we finished the HG002 genome to near-perfect accuracy: A complete diploid human genome benchmark for personalized genomics

Join our team and contribute to the development of complete, personalized “telomere-to-telomere” (T2T) genome assemblies and the analysis of previously inaccessible regions of the genome! We are currently accepting applications for postbaccalaureate and postdoctoral researchers.