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Global Alliance for Genomics and Health @ga4gh.org · 2d

Welcome to day two of the GA4GH 13th Plenary meeting.

Our Plenary live stream starts in one hour. Visit the GA4GH YouTube Channel to tune in to today’s programme: buff.ly/t2NWRKY

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · 2d

🧠 Curious what’s happening under the tentorium? Join us
Oct 8 (12–1pm PT) for Science Matters with Dr. Dan Doherty of @uwdeptmedicine.bsky.social and Seattle Children’s exploring how the #hindbrain develops and what happens when it doesn’t. Register: bit.ly/4gXQTfn
#Neuroscience #JoubertSyndrome

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 6d

Variant Effects Seminar Series
October and November lineup! Join us!
ℹ️https://www.varianteffect.org/seminar-series/

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Global Alliance for Genomics and Health @ga4gh.org · 7d

GA4GH is working to build a complete picture of all known DRS servers worldwide 🌐!

If your platform or project runs one or more DRS servers, please register or update your entry here:

Register Your DRS Server with GA4GH

The GA4GH maintains a registry of known implementations of their API standards including the Data Repository Service (DRS). This form makes registering a DRS server in the GA4GH Registry easier. If…

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 8d

We are #Hiring!
Communications role for our Global Alliance! 🌍🧬
Please share this post with your network, or apply if you are interested!
📍 Location: Hinxton, England
🕒 Part-time role
ℹ️ sanger.wd103.myworkdayjobs.com/en-US/Wellco...

#ScienceJobs #Communications #Genomics
#PartTimeRole #UKJobs

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GREGoR Consortium @gregor-research.bsky.social · 8d

🧬 #ASHG2025 is almost here!

Catch @gregor-research.bsky.social posters & talks throughout the meeting, plus our Featured Symposium (Oct 15) & Ancillary Session (Oct 16).

Find more information & register here: gregorconsortium.org/events/grego...

See you in Boston! #RareDisease #Research

GREGoR at ASHG | GREGoR Consortium

gregorconsortium.org

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 8d

We are hiring! Communications role for our Global Alliance! sanger.wd103.myworkdayjobs.com/en-US/Wellco... #job #hiring #Communications Hinxton, Cambridgeshire UK

Scientific Communications Manager -Part Time

Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...

sanger.wd103.myworkdayjobs.com

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Global Alliance for Genomics and Health @ga4gh.org · 9d

The GA4GH Implementation Forum (GIF) hosts "Ask Me Anything" sessions to help the community implement GA4GH products.

Join us on 30 October for the next session featuring Passports!

Register for the session: buff.ly/13RFyTV

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 13d

📣Call for Abstracts
for the Mutational Scanning Symposium! #VariantEffect26
🗓️ March 25-27, 2026
📍 Melbourne, Australia (and online!)
📝 Submit your abstract (deadline is Nov 2nd, 2025!)
➡️ Registration is also now open!!
ℹ️ www.mss2026.org

#FunctionalGenomics #Symposium #Australia #CallForAbstracts

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American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 13d

@vijayganesh.bsky.social, @maggie-arriaga.bsky.social, & co. of @ajhgnews.bsky.social latest article highlights RNA sequencing in rare disease diagnosis using a transcriptome-wide approach to detect minor spliceosome disorders & generate variant-to-function interpretations. #ASHG #HumanGenetics

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

RNA sequencing in rare disease is conventionally used to resolve the effect of a variant on a single gene. Here, we apply a transcriptome-wide approach to detect disorders of the minor spliceosome. Th...

www.cell.com

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Human Pangenome Reference Consortium @humanpangenome.bsky.social · 13d

HPRC will see you at #ASHG!

Join our workshop, The Human Pangenome: Data, Tools, and Workflows, on Oct 14 (10–12 pm) + look out for HPRC member presentations throughout the meeting.

Check out the presentations highlighted below, with more to come!

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Impact of Genomic Variation on Function @igvfconsortium.bsky.social · 13d

ASHG 2025 is coming up! 🎉

Keep an eye out for IGVF talks and posters throughout the meeting.

We'll see you in Boston!

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 20d

This is one not to miss!
We look forward to seeing you all in Melbourne. #VariantEffect26
⏰Abstract deadline is Nov 2nd 2025.

UW Genome Sciences @uwgenome.bsky.social · 20d

Registration is now open for the Mutational Scanning Symposium!!
25-27 March 2026
Melbourne, Australia
Matt Hurles (Wellcome Sanger) and Maitreya Dunham (University of Washington)
Deadline for abstract submissions: 2 November 2025.
www.mss2026.org

MSS26

Mutational Scanning Symposium 2026, 25-27 March, Melbourne

www.mss2026.org

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Global Alliance for Genomics and Health @ga4gh.org · 16d

💡 GA4GH GIF Spotlight is now open for public comment

The GA4GH Implementation Forum (GIF) is seeking feedback on a new mechanism for sharing experiences implementing GA4GH products.

Comments are due by 23 October 2025.

Learn more and share your feedback:

GA4GH GIF Spotlight is now open for public comment

The GA4GH Implementation Forum (GIF) promotes the real-world use of GA4GH standards through collaboration, interoperability, and community best practices. While current GIF initiatives — such as GIF…

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · 16d

Our Sept.Science Matters seminar is now on YouTube!
Experts Dr. Michael Gelb (UW Chemistry) and Dean Suhr (MLD Foundation) explored how newborn screening is advancing to meet the future of rare and genetic disease care.
📺 Watch here: youtu.be/B0S-J8F7UO0
#NewbornScreening #RareDisease #genetics

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GREGoR Consortium @gregor-research.bsky.social · 19d

Thank you to all our members and collaborators for an inspiring and productive @gregor-research.bsky.social meeting last week in San Diego! ☀️🧬

#RareDisease #Research

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Heather Mefford, MD, PhD @hcmefford.bsky.social · 21d

Appreciating these 2 during Postdoc Appreciation Week @stjuderesearch.bsky.social! Esmat @esfa.bsky.social spearheading our GNAI1 studies and Dianne (new!) embarking on her #raredisease research journey with us. 🧬 🧠 🧬

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Human Pangenome Reference Consortium @humanpangenome.bsky.social · 19d

👣 A big step forward for pangenome research.

New tool ropebwt3 makes large-scale BWT indexing feasible, scaling to hundreds of human genomes & terabases of bacterial assemblies.

Uncover the science behind it: pmc.ncbi.nlm.nih.gov/articles/PMC...

BWT construction and search at the terabase scale

Burrows–Wheeler Transform (BWT) is a common component in full-text indices. Initially developed for data compression, it is particularly powerful for encoding redundant sequences such as pangenome dat...

pmc.ncbi.nlm.nih.gov

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 20d

🧬 Out this month in Nature Reviews Cardiology: A powerful look at how multiplexed assays of variant effects (MAVEs) are reshaping our understanding of cardiovascular disease genetics. Contributors include members of the AVE Alliance.
📑 www.nature.com/articles/s41...
#Cardiology #FunctionalGenomics

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine - Nature Reviews Cardiology

In this Review, Roden and co-workers describe how multiplexed assays of variant effects can be used for high-throughput functional assessment of nearly all coding variants in a target sequence to impr...

www.nature.com

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Impact of Genomic Variation on Function @igvfconsortium.bsky.social · 21d

The IGVF Consortium began with one mission: to understand how genomic variation shapes genome function and influences health. Together, we’re building lasting resources for the research community.

igvf.org

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Atlas of Variant Effects Alliance @varianteffect.bsky.social · 23d

The 9th Annual Mutational Scanning Symposium will be held in Melbourne, Australia March 25-27, 2026 🌟 #VariantEffect26
www.mss2026.org Registration will open soon!!!!

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Global Alliance for Genomics and Health @ga4gh.org · 27d

Deadline approaching: register for GA4GH 13th Plenary in-person participation by 22 September.

Onsite registration will not be available. Virtual participation is free and open to all.

Learn more and register for the meeting: buff.ly/Iy5ocjo

Home

broadinstitute.swoogo.com

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Human Pangenome Reference Consortium @humanpangenome.bsky.social · 28d

#ASHG25 is a little over a month away!

As you plan your schedule, don’t forget to pencil in time for the HPRC workshop on Tuesday, October 14, from 10am - 12pm.

Details and registration below:
www.ashg.org/product/ashg...

ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows

Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome

www.ashg.org

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Global Alliance for Genomics and Health @ga4gh.org · 29d

📣 GA4GH 13th Plenary panel spotlight: “Real-world implementation of GA4GH standards”

Learn about real-world examples highlighting how GA4GH tools and frameworks are powering interoperability and translating data sharing into action.

Register for GA4GH 13th Plenary: buff.ly/k1udEHJ

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GREGoR Consortium @gregor-research.bsky.social · 28d

☀️ The @gregor-research.bsky.social Annual Meeting kicks off today in beautiful Coronado! 2 days of cutting-edge science, collaboration, and connection ahead.

Huge thanks to @agbt.bsky.social & @nabsys.bsky.social for sponsoring last night’s Sips & Science: A Sunset Cruise! 🚢🌅

#RareDiseaseResearch

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