Konrad Karczewski

4 years ago, we ran 16,554 GWASes for 7,271 traits across 6 ancestry groups and released the data to the public along with meta-analysis. After many careful dives through the results, we are happy to present these analyses on behalf of the Pan-UKB Project: medrxiv.org/content/10.110…

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

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 @danking00! So much science powered by @hailgenetics!

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…

And a great companion paper from @ksamocha and crew on compound heterozygotes in @gnomad_project

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…

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