New coverage in The Scientist highlights Dudley Lab research showing that two damaging variants don’t always make disease worse — in many cases, they restore protein function. These findings could reshape how #genetic risk is interpreted, especially for #raredisease. Read more at: bit.ly/4rdvgfm

Years of research with animal models led to answers to families with a child with undiagnosed conditions. D. Calame and @jesse-levine.bsky.social. blogs.bcm.edu/2026/02/10/f... @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social #HumanGenetics #TexasChildrens

Spotlight on GREGoR's ongoing efforts to "transform the diagnosis of rare diseases from a long shot into a manageable, evidence-driven process for families worldwide"! www.fredhutch.org/content/www/...

We’re excited to confirm Fritz Sedlazeck as our first speaker for #nanoporeconf! His research confronts genomic inequity, identifying novel variants that could influence disease risk, gene regulation and healthcare in Hispanic populations. https://bit.ly/4sOxMKd

Coming up! with Yuriy Baglaenko @baglaenkolab.bsky.social and Stephan Riesenberg @mpi-eva-leipzig.bsky.social Details ℹ️ ➡️ www.varianteffect.org/seminar-seri...

Accessible genomics training = career growth + representative workforce Join our Jan 27 webinar to learn how education opens doors for paraprofessionals and builds a better workforce. Register now: https://bit.ly/3Kvl4Pg #ASHG #HumanGenetics #GeneticsEducation

The recording is now available www.youtube.com/watch?v=domr...

Cheers to another year of discovery! 🎇 As we wrap up 2025 and look toward 2026, we’re excited to share voices from across IGVF. Tune in to our IGVF Q&A featuring consortium members reflecting on this year’s work and what’s ahead: youtu.be/zPzGIjSQJ4U

Help the DGIdb development team understand how we can better promote hypothesis generation and interaction data sets for the biomedical and clinical research community. Take 5 minutes to share how you use DGIdb and what we can improve for your research: forms.gle/ohrk49dmHMPX...

📢 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

📣 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...

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...

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...

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

🧬 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!

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

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...

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.

🗓️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

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

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

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

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

Jialan Ma presents: "Detecting Aberrant RNA Splicing Events for Rare Disease Diagnosis" #ASHG25 Thursday afternoon poster 4038T #RareDisease #Research

@nikigogate.bsky.social (@bcmhouston.bsky.social) presents: "Multi-omics framework for diagnosing NAXE deficiency" #ASHG25 Thursday afternoon poster 4099T #RareDisease #Research.

Dr. Daniel Calame (@bcmhouston.bsky.social) presents: "Dysfunction of the cationic amino acid transporter SLC7A1 causes autosomal recessive spastic cerebral palsy & hereditary spastic paraplegia" #ASHG25 Thursday afternoon poster 7003T #RareDisease #Research

Shaghayegh Beheshti (@bcmhouston.bsky.social) presents: "Reframing Septo-Optic Dysplasia as a Pathway-Defined Disorder: Insights from a Clinically and Genetically Diverse Cohort" #ASHG25 Thursday afternoon poster 7042T #RareDisease #Research

We just wrapped up our Ancillary Session, and now it's poster time this afternoon at #ASHG25! Many @gregor-research.bsky.social members will be presenting their work in Thursday's poster session. Check them out: gregorconsortium.org/events/grego...

Attend Thursday morning's #ASHG2025 talk to hear Dr. @leandrosboukas.bsky.social share his work at 11 am: "Identification of de novo variants from parent-proband duos via long-read sequencing" #RareDisease #Research

We're starting day three of #ASHG25 strong w/ the morning block of platform sessions! Not sure what to see? Check out this session, 'Human Diversity and Evolution,' highlighting recent progress in the study of ancient DNA and varied human populations: https://t.co/2JPtSIcbcZ https://t.co/RS2i8xLXHl

🚨Don't miss the GREGoR Consortium's Ancillary Session at #ASHG25 on Thursday at 11:45 am. Featuring: Dr. Ben Heavner, Dr. Alex Wagner (@alexphd.bsky.social) & Dr. Mike Schatz (@mikeschatz.bsky.social) #RareDisease #Research

We're live at #ASHG2025! Don't forget to check out SMaHT member presentations, happening this week.

We're live at #ASHG2025! Don't forget to look out for HPRC member presentations, happening this week.

Heading to the poster session Wednesday afternoon at #ASHG25? Stop by Dr. Christina Tise's poster to learn more about: "KATNA1 Deep Intronic Pentanucleotide AAAAT Repeat Expansion in Recurrent Triploidy of Maternal Origin" Program ID: 2001W #RareDisease #Research

Heading to the poster session Wednesday afternoon at #ASHG25? Stop by Dr. Lindsay Romo's poster to learn more about: "Annotation of Noncoding Regulatory Elements Enables Diagnosis of Rare Disease" Program ID: 4110W #RareDisease #Research