@GREGoR_research

Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.

 USA
gregorconsortium.org/
Joined October 2021
  • Tweets1.8K
  • Following438
  • Followers898
61Media
New in @Nature! “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. 🧬nature.com/articles/s41586-0…
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Join GREGoR consortium members at #ASHG26 in Montreal next week! Mark your conference calendars with these abstract presentations from GREGoR members gregorconsortium.org/events/…
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Registration for the GREGoR Ancillary Session at #ASHG26 closes Oct. 8th! Find more information and register at gregorconsortium.org/events/…
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Register for the #ASHG26 GREGoR Ancillary Session on Oct. 23, "Putting the pieces together: Multi-Omic Data from the GREGoR Consortium, Variant Matching with seqr, and Analysis with AnVIL!" Find more info and register at gregorconsortium.org/events/… by Oct. 8.
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GREGoR Consortium retweeted
Arthur Ko@arthur5koSep 1
Happy to finally share the preprint introducing the All of Us + AnVIL imputation service! A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations medrxiv.org/content/10.64898… @AllofUsResearch

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented...

Genotype imputation remains essential for large-scale human genetics studies, but its performance is limited by the size and ancestral diversity of available reference panels, reducing accuracy for...

medrxiv.org
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Catch presentations from GREGoR members at ACC2026 next week, including a keynote presentation from Ben Heavner on "Five Years on AnVIL: An Early Adopter's Experience with Consortium Data Sharing" on Sept. 1st, 9:45 am ET. Schedule: anvilproject.org/events/anvi… #GREGoR #RareDisease
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GREGoR Consortium retweeted
Ask_a_Scientist_Gaming@ScientistAskAug 21
In case you missed it live, here is Dr. Lisa Chadwick talking about life as a deputy director of @NIH @genome_gov, rare genetic diseases, remote vs. in-person work, genetic testing, @GREGoR_research, the color of cats, etc. while playing Super Paper Mario. youtube.com/watch?v=gbxiOh02…

Ep 131 (Full): Dr. Chadwick, the NIH, Genetics, and Super Paper Mario

In episode 131 of Ask a Scientist Gaming, Dr. Chadwick answers ques...

youtube.com
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GREGoR Consortium retweeted
Ask_a_Scientist_Gaming@ScientistAskAug 14
Join us Wed Aug. 19th, 8-11 pm EDT for a live Q&A with deputy director of the @NIH Division of Genome Sciences, Dr. Lisa Chadwick, who will talk funding processes, genetics, genomics, and more while playing Super Paper Mario. (@genome_gov,@GREGoR_research) genome.gov/staff/Lisa-Helbli…
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GREGoR Consortium retweeted
Andreas Gschwind@argschwindJul 15
Our paper is now out in Nature! 🎉 Expanded to 92M+ enhancer–gene links across 1,458 biosamples, with new benchmarks and analyses. "An encyclopedia of human enhancer–gene regulatory interactions": nature.com/articles/s41586-0… Grateful to the whole team of this massive effort!

An encyclopedia of human enhancer–gene regulatory interactions

Nature - An encyclopedia of more than 92 million enhancer–gene regulatory interactions created as part of the ENCODE4 project provides a valuable resource for future studies of gene...

nature.com
Andreas Gschwind@argschwind14 Nov 2023
Excited to share our latest work on bioRxiv! biorxiv.org/content/10.1101/… A highly collaborative effort with @ksmualim @karbalayghareh, @mayayayas, @kanishkadey, @evelynjagoda,@WangXijhu, @LarsMSteinmetz, @anshulkundaje, @jengreitz and many others from @ENCODE_NIH! Thread👇

An encyclopedia of enhancer-gene regulatory interactions in the human genome

Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation and the impact of human genetic variation on disease[1][1]–[6][2]. Here we create and...

biorxiv.org
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⏰ Final call to submit your #research abstract for display at the 2026 #NORDSummit! Submit your #RareDisease or orphan product study, or #PublicHealth study related to rare diseases, by Wednesday, July 22, here: bit.ly/4fas6UU
Two individuals are discussing a poster presentation at the NORD Breakthrough Summit. The event encourages sharing research, insights, and innovations within the rare disease community. An orange circle highlights that poster abstracts are due by July 22.

ALT Two individuals are discussing a poster presentation at the NORD Breakthrough Summit. The event encourages sharing research, insights, and innovations within the rare disease community. An orange circle highlights that poster abstracts are due by July 22.

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GREGoR Consortium retweeted
AnVIL@useAnVILJul 15
Do you want to learn about AnVIL and run your first analysis in the cloud? Join the AnVIL 101 Virtual Workshop on Wednesday, July 29, 2026, from 1–3 PM ET. Get an intro to AnVIL, watch a live demo, and try a guided hands-on analysis. Register here: buff.ly/MnOAI41
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GREGoR Consortium retweeted
AJHG@AJHGNewsJul 15
🧬Online now! 📄Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder 🧑‍🤝‍🧑 @Philip_M_Boone @TalkowskiLab & co cell.com/ajhg/abstract/S0002…

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic...

Boone et al. describe a neurodevelopmental condition caused by haploinsufficiency of the cohesin release factor WAPL and provide phenotypic and functional genomic evidence of WAPL as a driver gene...

cell.com
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🧬New from @TalkowskiLab & co! 📄 #CRISPR -engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling 👉 bit.ly/4gFnit8
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GREGoR Consortium retweeted
Genetics in Medicine@GIMJournalJul 16
MAJIQ-CLIN is a user-friendly tool to aid in finding #Mendelian-causing #variants from #RNA-Seq data. bit.ly/4wD8lwm #raredisease #bioinformatics
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⏰ Only one week left to your abstract or apply for the Next Gen Leadership Awards (travel grant) by July 21 for the AGBT Precision Health Meeting, Sept. 14-16, 2026, in San Diego. Submit your abstract today: hubs.ly/Q04pytFz0 #AGBTPH26 #PrecisionHealth #Genomics
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GREGoR Consortium retweeted
ASHG@GeneticsSocietyJul 16
By exploring the relevance of cohesin release factors in Mendelian disease, @Philip_M_Boone & co of @AJHGNews' latest article identified a WAPL-related disorder & provided genomic evidence for WAPL as a driver gene in the 10q genomic disorder region: bit.ly/3T0Gc3J #ASHG
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GREGoR Consortium retweeted
AnVIL@useAnVILJul 15
📢 ACC2026 abstract deadline extended! You now have until July 26 at midnight to submit your abstract for the AnVIL Community Conference 2026. Share your work with the AnVIL community this August in Cambridge, MA. Submit: bit.ly/anvil2026-abstract Register: bit.ly/anvil2026-register
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GREGoR Consortium retweeted
Genetics in Medicine@GIMJournalJul 7
EvAgg, an open-source generative #AI tool, helps accelerate #raredisease diagnosis by extracting gene-specific variant and phenotype evidence from the literature. bit.ly/44cfAzh
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GREGoR Consortium retweeted
IGVF@IGVFConsortiumJul 2
FastGxC is a tool for identifying context-specific genetic effects from single-cell and bulk RNA-seq data. By modeling repeated samples from the same individual, it improves detection power and remains robust even with missing data. Explore the tool: github.com/BalliuLab/FastGxC

GitHub - BalliuLab/FastGxC

Contribute to BalliuLab/FastGxC development by creating an account on GitHub.

github.com
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Read more about VizCNV, "an open-source platform that incorporates read depth and BAF to enable haplotype-aware CNV analysis" - a collaboration between the Baylor College of Medicine GREGoR Research Center and the Carvalho Lab Partner Group at PNRI.
Pacific Northwest Research Institute@PNRIGeneticsMay 29
Understanding the #genome isn't always about finding one wrong note. Sometimes it's about hearing the whole symphony. Learn how PNRI researchers are uncovering hidden causes of disease. @CMBCarvalho. Read more: bit.ly/4nVblkx #raredisease #geneticvariants
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The GREGoR Consortium preprint "Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset" is now live on bioRxiv!
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Development and implementation of a common Consortium Data Model: 🧬 Enables large-scale rare disease research 🤝 Facilitate[s] cross-center data harmonization 💻 Enables data interoperability
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Read the full paper on bioRxiv to see how adoption of this unified data architecture accelerates rare disease research and discovery: 🚀 biorxiv.org/content/10.64898… #RareDisease #DataModel #GREGoR
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