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/
Pinned
GREGoR: accelerating genomics for rare diseases - Nature
The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.
www.nature.com
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...
🧬 www.nature.com/articles/s41...
Reposted by GREGoR Consortium
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
🎥Discover what’s in store: youtu.be/f0PP2Ih1w68 #ASHG
The Virtual Symposium shows how research is making data sharing faster & improving diagnoses!
YouTube video by HumanGeneticsSociety
youtu.be
November 25, 2025 at 6:37 PM
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
🎥Discover what’s in store: youtu.be/f0PP2Ih1w68 #ASHG
Reposted by GREGoR Consortium
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
November 13, 2025 at 6:32 PM
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
Reposted by GREGoR Consortium
🧬 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
#CancerResearch #Genomics
November 7, 2025 at 8:38 PM
🧬 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
#CancerResearch #Genomics
Reposted by GREGoR Consortium
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!
How a “common language” to share genetic variation can improve patient care
When a doctor suspects their patient might have a genetic disease, they can test a person’s genome to find differences (variants) that might cause the symptoms. However, it can be challenging to find…
youtu.be
November 10, 2025 at 5:15 PM
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!
Reposted by GREGoR Consortium
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
November 11, 2025 at 6:18 PM
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
Reposted by GREGoR Consortium
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...
GREGoR: accelerating genomics for rare diseases - Nature
The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.
www.nature.com
November 12, 2025 at 4:59 PM
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...
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...
🧬 www.nature.com/articles/s41...
GREGoR: accelerating genomics for rare diseases - Nature
The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.
www.nature.com
November 12, 2025 at 11:09 PM
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...
🧬 www.nature.com/articles/s41...
Reposted by GREGoR Consortium
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
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social
November 10, 2025 at 2:25 PM
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
Huge thanks to everyone world wide who joined the @bcmhgsc.bsky.social madness 🎉
🔗 f1000research.com/articles/14-...
@gregor-research.bsky.social @smahtnetwrk.bsky.social
Reposted by GREGoR Consortium
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
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
November 6, 2025 at 5:33 PM
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
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
Reposted by GREGoR Consortium
🏓 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
#RareDiseaseAwareness #ARG1D
November 7, 2025 at 12:10 AM
🏓 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
#RareDiseaseAwareness #ARG1D
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
Reposted by GREGoR Consortium
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/
www.science.org/doi/10.1126/
November 1, 2025 at 8:33 PM
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/
www.science.org/doi/10.1126/
Reposted by GREGoR Consortium
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.
The National Academy of Medicine elected 90 new members, including 10 international, including our chair,
@euanashley.bsky.social in recognition of his efforts to help lay the foundation for the use of the human genome in medicine. Congratulations, Euan!
Read more: med.stanford.edu/news/all-new...
@euanashley.bsky.social in recognition of his efforts to help lay the foundation for the use of the human genome in medicine. Congratulations, Euan!
Read more: med.stanford.edu/news/all-new...
October 30, 2025 at 8:22 AM
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.
Reposted by GREGoR Consortium
November 3, 2025 at 2:30 PM
Reposted by GREGoR Consortium
October is #HealthLiteracyMonth! 🧠 Simple, trusted info on cell and gene therapies is just a click away: patienteducation.asgct.org
October 31, 2025 at 7:00 PM
October is #HealthLiteracyMonth! 🧠 Simple, trusted info on cell and gene therapies is just a click away: patienteducation.asgct.org
Reposted by GREGoR Consortium
Trio-barcoded @nanoporetech.com Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & high cov: 76% solve rate across 13 trios inc. two corrections from prev. diagnosis. www.medrxiv.org/content/10.1...
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
October 27, 2025 at 1:05 PM
Trio-barcoded @nanoporetech.com Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & 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
@gregor-research.bsky.social @bcmhgsc.bsky.social
#Research
Reposted by GREGoR Consortium
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...
We tested HG002-4 & sequenced 21 families. We could detangle complex SV & other interesting findings described here: www.medrxiv.org/content/10.1...
Constellation illuminates rare disease genetics
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long r...
www.medrxiv.org
October 20, 2025 at 1:40 PM
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...
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
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
October 17, 2025 at 4:31 PM
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
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
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
October 17, 2025 at 4:30 PM
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
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
Reposted by GREGoR Consortium
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
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
October 16, 2025 at 7:06 PM
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
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
Dr. 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
"MetaDome 2.0: Aggregation of genetic variants across homologous human protein domains improves variant impact investigation"
#ASHG25 Thursday afternoon poster 4109T
#RareDisease #Research
October 16, 2025 at 5:28 PM
Dr. 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
"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
"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
October 16, 2025 at 5:27 PM
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
"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
"The GREGoR multiomics report: web application that integrates disparate omics results into a unified interface"
#ASHG25 Thursday afternoon poster 8023T
#RareDisease #Research
October 16, 2025 at 5:26 PM
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
"The GREGoR multiomics report: web application that integrates disparate omics results into a unified interface"
#ASHG25 Thursday afternoon poster 8023T
#RareDisease #Research
Dr. Shruti Pande (@bcmhouston.bsky.social) presents:
"Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies"
#ASHG25 Thursday afternoon poster 2004T
#RareDisease #Research
"Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies"
#ASHG25 Thursday afternoon poster 2004T
#RareDisease #Research
October 16, 2025 at 5:25 PM
Dr. Shruti Pande (@bcmhouston.bsky.social) presents:
"Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies"
#ASHG25 Thursday afternoon poster 2004T
#RareDisease #Research
"Haploinsufficiency of RNPS1, a Component of the Exon Junction Complex, Causes a Developmental Disorder with Skeletal Anomalies"
#ASHG25 Thursday afternoon poster 2004T
#RareDisease #Research
Jialan Ma presents:
"Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis"
#ASHG25 Thursday afternoon poster 4038T
#RareDisease #Research
"Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis"
#ASHG25 Thursday afternoon poster 4038T
#RareDisease #Research
October 16, 2025 at 5:24 PM
Jialan Ma presents:
"Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis"
#ASHG25 Thursday afternoon poster 4038T
#RareDisease #Research
"Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis"
#ASHG25 Thursday afternoon poster 4038T
#RareDisease #Research