Great coverage of our work by MassGeneral News: massgeneral.org/news/press-rel…

Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics. We hope that the resource we generated will be useful when interpreting rare co-occurring variants in the context of recessive disease. nature.com/articles/s4158…

And a great companion paper from Kaitlin Samocha and crew on compound heterozygotes in Genome Aggregation Database

As genomic analyses scale to millions of exomes/genomes, we need a scalable infrastructure to process/QC the data while retaining all the metrics needed for downstream analysis. A new preprint from the Hail team proposes a way to do this! Comments welcome: biorxiv.org/content/10.110…

Amazing opportunity to work with an amazing team. I would highly recommend this role to anyone qualified (I have worked closely with those in this role, although you could see that as a pro or a con). We’ll miss you Dan King! So much science powered by Hail!

gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1