Absolutely excited to have our "Gnocchi" (Genomic NOn-Coding Constraint of Haplo-Insufficient variation) metric seen by the public @Nature! Use this full-text link rdcu.be/dsVX1 to see how it was cooked!!
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/s41586-0…
The #gnomAD v3 papers are now published! This includes the non-coding constraint paper (broad.io/gnomAD_v3_non_codin…) & inferring compound heterozygosity paper (broad.io/gnomAD_v3_comp_het). Congratulations to everyone who contributed to this valuable work! (1/2)