GREGoR Consortium
@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/
https://gregorconsortium.org/
Reposted by GREGoR Consortium
Amazing work from Daniel, Fritz and team!
Paper: www.science.org/doi/10.1126/...
Variant effect map review: www.nature.com/articles/s41...
Cardiovar consortium: www.genomeweb.com/research-fun...
Atlas of variant effect maps: www.mavedb.org
Paper: www.science.org/doi/10.1126/...
Variant effect map review: www.nature.com/articles/s41...
Cardiovar consortium: www.genomeweb.com/research-fun...
Atlas of variant effect maps: www.mavedb.org
The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR
Variants in the familial hypercholesterolemia gene LDLR—the most important genetic driver of cardiovascular disease—can raise circulating low-density lipoprotein (LDL) cholesterol concentrations and i...
www.science.org
November 1, 2025 at 8:33 PM
Amazing work from Daniel, Fritz and team!
Paper: www.science.org/doi/10.1126/...
Variant effect map review: www.nature.com/articles/s41...
Cardiovar consortium: www.genomeweb.com/research-fun...
Atlas of variant effect maps: www.mavedb.org
Paper: www.science.org/doi/10.1126/...
Variant effect map review: www.nature.com/articles/s41...
Cardiovar consortium: www.genomeweb.com/research-fun...
Atlas of variant effect maps: www.mavedb.org
If you attended our Ancillary Session today, please take our feedback survey: docs.google.com/forms/d/e/1F...
GREGoR Consortium ASHG 2025 Ancillary Session Feedback
Thank you for attending our ancillary session at ASHG! Please share your thoughts on the GREGoR Dataset and our ASHG ancillary session below.
docs.google.com
October 16, 2025 at 7:14 PM
If you attended our Ancillary Session today, please take our feedback survey: docs.google.com/forms/d/e/1F...
If you attended our Ancillary Session today, please take our feedback survey: docs.google.com/forms/d/e/1F...
GREGoR Consortium ASHG 2025 Ancillary Session Feedback
Thank you for attending our ancillary session at ASHG! Please share your thoughts on the GREGoR Dataset and our ASHG ancillary session below.
docs.google.com
October 16, 2025 at 7:13 PM
If you attended our Ancillary Session today, please take our feedback survey: docs.google.com/forms/d/e/1F...