Sam Baxter
sambaxter.bsky.social
Sam Baxter
@sambaxter.bsky.social
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 and @anneotation.bsky.social for their support and belief in GeniE from the very beginning!! (4/4)
June 4, 2024 at 4:49 PM
Thank you to everyone who contributed to this project (broad.io/genie_blog_a...), but especially our co-developers Chan Zuckerberg Initiative's #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)
GeniE, the Genetic Prevalence Estimator | gnomAD browser
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from...
broad.io
June 4, 2024 at 4:47 PM
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)
June 4, 2024 at 4:46 PM