@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/
📢 Registration for the ASGCT 2026 Annual Meeting is officially open! Secure your spot to join thousands of cell and gene therapy experts in Boston, May 11-15, 2026. Register today: https://annualmeeting.asgct.org/register-attend/rates-registration
03.12.2025 19:18 — 👍 1 🔁 2 💬 0 📌 0
📣 November 2025 Data Release Now Live on AnVIL!
New datasets are now available from these studies: GREGoR, IGVF, OurHealth, CCDG, METSIM, and more! Access & analyze in AnVIL's secure, cloud-based platform.
📖 Read more in the release notes: anvilproject.org/releases/202...
Graphical summary
Excited to share a genome-wide analysis of pathogenic truncating variants that escape nonsense-mediated decay (NMD) that may produce truncated and/or altered protein tails that are likely to disrupt condensate behavior, contributing to human disease.
www.medrxiv.org/content/10.6...
Learn about the major accomplishments of @gregor-research.bsky.social. R. Gibbs, @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com blogs.bcm.edu/2025/11/18/f...
18.11.2025 21:04 — 👍 2 🔁 4 💬 0 📌 0
Check major accomplishments of @gregor-research.bsky.social. @eurekalert.bsky.social @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com www.eurekalert.org/news-release...
20.11.2025 20:56 — 👍 2 🔁 3 💬 0 📌 0
The Virtual Symposium on Dec. 2-3 shows how research is making data sharing faster & improving diagnoses. Speaker Nara Sobreira, MD, PhD, gives a preview of her talk on the diagnosis odyssey. To see her full talk, register now: bit.ly/4oPdyh3
🎥Discover what’s in store: youtu.be/f0PP2Ih1w68 #ASHG
It's #GeneticCounselorAppreciationDay!🧬 We recognize the incredible impact of #geneticcounselors who bring clarity, compassion, & expertise to patients navigating #genomics. Be part of the celebration—check out these National Society of Genetic Counselors events: www.nsgc.org/Education-an... #ASHG
13.11.2025 18:32 — 👍 1 🔁 2 💬 0 📌 0🧬 How do cancer genomes evolve — and how can decoding them improve diagnosis & treatment? Join PNRI’s #ScienceMatters seminar Nov 19 (10–11 am PT) with Dr. Isidro Cortés-Ciriano of @ebi.embl.org & @sangerinstitute.bsky.social. Free on Zoom ➡️ bit.ly/3JD4AEo
#CancerResearch #Genomics
The GA4GH Genomics Knowledge Standards (GKS) Work Stream aims to develop a “common language” to describe and share variants, helping to deliver on the promise of scalable genomic medicine. Watch the animation to learn more!
10.11.2025 17:15 — 👍 1 🔁 1 💬 0 📌 0
Genetic testing can raise more questions than answers, especially for #RareDisease variants. A new PNRI study w/ @bcmhouston.bsky.social, Texas Children's Hosp, @childrensnational.bsky.social and Univ. of VA clarifies how #OTC gene variants affect health & guide prevention. More at: bit.ly/48d8WdJ
11.11.2025 18:18 — 👍 0 🔁 1 💬 0 📌 0
Read about our efforts in the NHGRI's GREGoR Consortium to tackle some of the hardest-to-solve rare disease diagnoses. Online now www.nature.com/articles/s41...
12.11.2025 16:59 — 👍 1 🔁 3 💬 0 📌 0
New in @nature.com! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500+ individuals in 3,000+ families.
🧬 www.nature.com/articles/s41...
From coffee-fueled coding marathons ☕ to new genomics tools: Our 2024 #Hackathon paper is out in @f1000publishing.bsky.social !
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social
Do you analyze NIH data in a compliant system? AnVIL could be your solution!
Join our next AnVIL Demo on Nov 19 at 10 am ET to learn how AnVIL meets the new security requirements under the Genomic Data Sharing Policy.
✏️ Sign up for AnVIL Demos here: bit.ly/anvil-demos
🏓 Great news! The early-bird registration discount for Hope on the Court has been extended to Nov 17. Join the Dec 7 #pickleball tournament benefiting families affected by Arginase 1 Deficiency. Play for fun or for medals — all ages welcome! Register: hopeonthecourt.com
#RareDiseaseAwareness #ARG1D
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
So excited about this new work from our CardioVar consortium out this week in Science led by the amazing Daniel Tabet and @fritzroth.bsky.social.
www.science.org/doi/10.1126/
The credit for this honor goes to my team and the incredible environment here at Stanford University. I am so grateful for the opportunities that this special place has afforded me.
30.10.2025 08:22 — 👍 4 🔁 1 💬 0 📌 0
🗓️Abstract Deadline Extended
to December 1st, 2025!
#VariantEffect26
ℹ️https://www.mss2026.org
October is #HealthLiteracyMonth! 🧠 Simple, trusted info on cell and gene therapies is just a click away: patienteducation.asgct.org
31.10.2025 19:00 — 👍 2 🔁 1 💬 0 📌 0
Trio-barcoded @nanoporetech.com Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & high cov: 76% solve rate across 13 trios inc. two corrections from prev. diagnosis. www.medrxiv.org/content/10.1...
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
We investigated Constellation from Illumina @bcmhgsc.bsky.social for rare disease cases @gregor-research.bsky.social from @bcmhouston.bsky.social.
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Heading to the poster session Friday afternoon at #ASHG25?
Stop by Dr. Laurens van de Wiel's (@laurensvdwiel.bsky.social) poster to learn more about:
"ESMO-MD: Evolutionary Scale Model Optimized on Meta-Domains learns human protein domain embeddings for variant effect prediction"
Poster 4033F
Heading to the poster session Friday afternoon at #ASHG25?
Stop by Dr. Georgia Pitsava's poster to learn more about:
"Long-read Genome Sequencing Resolves Genetic Cases Missed by Short-read Sequencing"
Program ID: 4069F #RareDisease #Research
Day ✌️ of poster sessions is underway in the exhibit hall!
Missed coming to the hall yesterday? No worries — today’s lineup is completely new! Come for science, stay for inspiration. 📲Browse our poster selection here: https://pheedloop.com/ASHG25/ #ASHG25
If you attended our Ancillary Session today, please take our feedback survey: docs.google.com/forms/d/e/1F...
16.10.2025 19:14 — 👍 0 🔁 0 💬 0 📌 0
If you attended our Ancillary Session today, please take our feedback survey: docs.google.com/forms/d/e/1F...
16.10.2025 19:13 — 👍 0 🔁 0 💬 0 📌 0Dr. Laurens van de Wiel (@laurensvdwiel.bsky.social) presents:
"MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation"
#ASHG25 Thursday afternoon poster 4109T
#RareDisease #Research
Andres Rivera-Munoz & Dr. Moez Dawood (@moezdawood.bsky.social) present:
"A plug-and-play, user-friendly platform to annotate and analyze variants from omics sequencing"
#ASHG25 Thursday afternoon poster 2043T
#RareDisease #Research @bcmhouston.bsky.social
Paul Petrowski presents:
"The GREGoR multiomics report: web application that integrates disparate omics results into a unified interface"
#ASHG25 Thursday afternoon poster 8023T
#RareDisease #Research
