A special thank you to Nick Watts, Riley Grant & Josephine Lee for lending their software development expertise to this tool. Finally, thank you to @heidirehm.bsky.social@anneotation.bsky.social for their support and belief in GeniE from the very beginning!! (4/4)

Thank you to everyone who contributed to this project (broad.io/genie_blog_a...#RareAsOne Network. This tool was inspired by the rare disease advocacy community and I am so grateful to count you all as collaborators (3/4)

Not only can users use the tool to create their own estimates, but they can also use the GeniE dashboard to browse preliminary genetic prevalence estimates, based on our standardized script, as well search for expert-curated public lists (2/4)

This release is 6 years in the making! I am so excited to finally share GeniE, the genetic prevalence estimator, with the genetics community. By removing the need for computational expertise, GeniE makes estimating genetic prevalence more standardized and accessible  broad.io/genie (1/4)

GAgnomad-project.bsky.socialJun 4, 2024 4:44pm

GeniE, the genetic prevalence estimator, is now available! broad.io/genie This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar Blog post: broad.io/genie_blog

I can't image a be a better first post on bluesky! I am so excited to have #gnomAD#genechat

GAgnomad-project.bsky.socialNov 1, 2023 6:35pm

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)