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…

Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…

Please take a few minuets to provide feedback to the #hail team!

As part of v4, we are happy to announce the launch of the #gnomAD forum broad.io/gnomad_forum. This will be a place for our users to help each other, discuss the data and ask questions. #ASHG23

To learn more about what is involved with QCing the gnomAD v4 dataset please attend Julia Goodrich’s #ASHG23 talk today (11/4) at 10:30am in ballroom B

Gene constraint is now available on #gnomAD v4! This is the first time we have had constraint data available on GRCh38. Katherine Chao will be covering this work during her talk at #ASHG23 tomorrow (11/4) at 11am in rm 202A.

To learn more about the impact of diversity on variant discovery and gene constraint please attend Katherine Chao’s #ASHG23 talk tomorrow (11/4) at 11am in rm 202A