gregor-research.bsky.social
The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders. https://gregorconsortium.org/
👤 Joined on 20 November 2024
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@gregor-research.bsky.socialHave you listened to the Variants and Us (VUS) podcast yet? Now into its second season, the podcast focuses on the basic and translational science necessary to map the effect of variants in disease and rare disease. Listen to all episodes here: www.varianteffect.org/podcast/
Show Post🎤 Meet the ACC2026 keynote speakers! Join Kristin Ardlie, Ph.D. (Broad Institute/GTEx) and Ben Heavner, Ph.D. (University of Washington/GREGoR) at the AnVIL Community Conference, Aug 31–Sept 1 in Cambridge, MA. Learn more: bit.ly/anvil2026
Show PostWhat if understanding the genome requires hearing the whole orchestra, not just a single instrument? A study led by @claucarvalho.bsky.social combines multiple layers of genomic data to uncover disease-causing variants that standard methods can miss. Read more: bit.ly/4nVblkx #raredisease
Show PostHear from Karen Mohlke, PhD, as she introduces the IGVF Consortium and its efforts to build a functional genomics resource connecting genetic variation to genome function and disease. Check out the full presentation: youtu.be/CbCILxe_eSI?...
Show Post📊 Spread the word about your tool or highlight your research results with other scientists doing genomics in the cloud! Submit an abstract today for a poster or talk at the AnVIL Community Conference 2026! Deadline is July 15: bit.ly/anvil2026-abstract Learn more: bit.ly/anvil2026
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