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GWAS Catalog @gwascatalog.bsky.social · 17/09/2026

The GWAS Catalog documentation is now interactively available through DocBot! 🤖 Try the widget on the GWAS Catalog home page to search across our FAQs ❔ and Documentation! 📄

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GWAS Catalog @gwascatalog.bsky.social · 11/08/2026

🚧 MAINTENANCE ALERT The GWAS Catalog submission app will be unavailable until Friday 14 August while we carry out maintenance. In the meantime, you can review our submission guidelines and prepare your summary statistics 🧑‍💻: ebi.ac.uk/gwas/docs/su...

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GWAS Catalog @gwascatalog.bsky.social · 03/07/2026

The GWAS Catalog now has an MCP server. Natural language queries over associations, studies, and traits: live from the Catalog. Works with any MCP-compatible client. 🧑‍💻 Most significant type 2 diabetes association? 🤖 TCF7L2 rs7903146, p = 3×10⁻¹³¹⁵ www.ebi.ac.uk/gwas/mcp

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GWAS Catalog @gwascatalog.bsky.social · 26/06/2026

Meet PEGASUS 🧬 A new community standard for reporting predicted effector genes. Making post-GWAS predictions more FAIR, comparable, and reusable across studies. Read the bioRxiv preprint: www.biorxiv.org/content/10.6... #GWAS #Genomics #OpenScience

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GWAS Catalog @gwascatalog.bsky.social · 12/06/2026

🚀 PEGASUS at #ESHG2026! Discover a new schema for sharing Predicted Effector Gene (PEG) data and making variant-to-function evidence more FAIR and reusable. 📍Poster P16.105.C | 🗓️14 Jun | 🕒12:45-13:45 #Genomics #FAIR #Data #ESHG2026 #PEGASUS #PEGStandard #Genomics #HumanGenetics #DataSharing

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GWAS Catalog @gwascatalog.bsky.social · 28/04/2026

Beyond-SNP GWAS submissions are now supported in the GWAS Catalog. ✓ #Gene-based GWAS ✓ #CNV GWAS Both have defined schemas, validation tooling, and submission guidelines. Browser-based validation is available for those who prefer not to touch a CLI. www.ebi.ac.uk/gwas/apps/be...

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GWAS Catalog @gwascatalog.bsky.social · 21/04/2026

777 studies, 745 with summary statistics - the @genesandhealth.bsky.social WES study is now in the GWAS Catalog, aiming to improve health outcomes for South Asian populations. Go explore 👇 www.ebi.ac.uk/gwas/publica...

ebi.ac.uk

GWAS Catalog

The NHGRI-EBI GWAS Catalog: a curated collection of all published genome-wide association studies, produced by a collaboration between EMBL-EBI and NHGRI

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GWAS Catalog @gwascatalog.bsky.social · 17/04/2026

Looking forward to #Biocuration2026 in Cape Town next week! Workshops: 🔬 Pathways Towards Biocuration (Day 1) 🧠 Structuring Scientific Knowledge with Ontologies (Day 2) Poster Bio-115: 📊 GWAS Data sharing Come chat about genomics data sharing & knowledge organisation #Biocuration #GWAS #FAIRdata

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GWAS Catalog @gwascatalog.bsky.social · 08/04/2026

We put the #GWAS Catalog on Hugging Face. 📦 gwascatalog/associations - 1M+ rows 📦 gwascatalog/studies - 200k+ studies 📦 gwascatalog/samples - 275k+ sample population descriptors Parquet, #Data Studio preview, datasets library compatible.

huggingface.co

gwascatalog (GWAS Catalog)

Org profile for GWAS Catalog on Hugging Face, the AI community building the future.

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GWAS Catalog @gwascatalog.bsky.social · 25/03/2026

GWAS Catalog API reminder: REST API v2 is live now, and v1 is planned for deactivation in May 2026. Please migrate and validate your pipelines early. Docs: www.ebi.ac.uk/gwas/rest/ap...

ebi.ac.uk

GWAS Catalog REST API

The NHGRI-EBI GWAS Catalog: a curated collection of all published genome-wide association studies, produced by a collaboration between EMBL-EBI and NHGRI

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GWAS Catalog @gwascatalog.bsky.social · 09/02/2026

GWAS Catalog API v1 retires in May 2026 🧬 Migrating to v2? It's faster, more stable, and gives you better query control. Docs 👉 www.ebi.ac.uk/gwas/rest/api/v2/docs Ref 👉 www.ebi.ac.uk/gwas/rest/api/v2/docs/reference 3 months to go #genomics

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GWAS Catalog @gwascatalog.bsky.social · 28/01/2026

The GWAS Catalog is at the Festival of Genomics! #FOG2026 Come to the Poster Zone to learn more about our new REST API, and join the 11.30am panel discussion to hear Principal Investigator Helen Parkinson talk about scaling #biodata

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GWAS Catalog @gwascatalog.bsky.social · 22/12/2025

It’s a wrap!! Our end of year break is now coming and we’ll be out of the office between 24th Dec and 1st Jan. Incoming helpdesk queries will be dealt with on 2nd Jan. It's been a bumper year at the GWAS Catalog! A quick recap of what we added... #gwas #openscience

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Reposted by GWAS Catalog

The Polygenic Score Catalog @pgscatalog.bsky.social · 15/12/2025

Wish it was easier to calculate PGS in trusted research environments (TRE) like DNAnexus or the All of Us workbench? Us to! We've been hard at work on a new version of pgsc_calc to make it more scalable in those TREs! Introducing pgsc_calc v3.0.0-alpha.1: pgsc-calc.readthedocs.io/en/v3-alpha.1/

buff.ly

pgsc_calc: a reproducible workflow to calculate polygenic scores | PGS Catalog Calculator documentation.

The `pgsc_calc` workflow makes it easy to calculate a polygenic score

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GWAS Catalog @gwascatalog.bsky.social · 11/12/2025

Join us TODAY 12 noon ET/6pm CET to learn about the PEGASUS standard for predicted effector genes. Webinar link: hugeamp.org/news.html?ni...

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Open Targets @opentargets.org · 10/12/2025

Open Targets Platform 25.12 is out now! Thanks to a GWAS Catalog update including 3 major studies using UK Biobank data, we now have over 1.4 million GWAS credible sets in the Platform. Discover the data, feature, and technical updates in this release: blog.opentargets.org/open-targets... 🧬🖥️

blog.opentargets.org

Open Targets Platform 25.12 has been released!

The latest release of the Platform, and our last one of the year — 25.12 — is now available at platform.opentargets.org. Key points * Following a GWAS Catalog update, this release contains over 1....

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GWAS Catalog @gwascatalog.bsky.social · 01/12/2025

🚨Reminder🚨 Accessing GWAS Catalog data programmatically? Try our new REST API with more features & improved design: 📖 Docs: www.ebi.ac.uk/gwas/rest/ap... ✎ Interactive workbook: tinyurl.com/5ak3hfzc ⏰ V1 deactivates May 2026 - migrate now! #GWAS #GWASCatalog #Bioinformatics

ebi.ac.uk

GWAS Catalog REST API

The NHGRI-EBI GWAS Catalog: a curated collection of all published genome-wide association studies, produced by a collaboration between EMBL-EBI and NHGRI

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GWAS Catalog @gwascatalog.bsky.social · 17/11/2025

A huge thank you to everyone who joined our #ASHG2🧬 ancillary session on the PEGASUS framework! We were delighted to see such strong engagement and thoughtful discussion around Predicted Effector Genes (PEG) and our new framework⊞ - for representing gene prioritisation evidence🕵️ & conclusion📌.

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Reposted by GWAS Catalog

The Polygenic Score Catalog @pgscatalog.bsky.social · 11/11/2025

Another month and lots of new & useful data added to www.PGSCatalog.org! Including new multi-ancestry insulin resistance scores, a score tailored for heart failure in East Asian individuals & more!

pgscatalog.org

PGS Catalog - The Polygenic Score Catalog

The Polygenic Score (PGS) Catalog is an open database of published PGS and the relevant metadata needed to apply and evaluate them correctly.

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GWAS Catalog @gwascatalog.bsky.social · 05/11/2025

🚨 NEWS! The GWAS Catalog Diagram is back up! 🚨 Smoother, faster loading for filtered views! 🗺️ Explore now 👉 www.ebi.ac.uk/gwas/diagram Tell us what you think! Are there any features you would like? Help us to make it useful for the #gwas community

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GWAS Catalog @gwascatalog.bsky.social · 23/10/2025

🚨 Using the GWAS Catalog “All associations” tsv download file? We recently made some changes that may affect your pipelines. The data now includes >1m curated associations! This means the “All associations” file is extremely large! In the latest release, you now have a choice of two formats 👇

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GWAS Catalog @gwascatalog.bsky.social · 17/10/2025

Meet PEGASUS! Working on post-GWAS analyses to predict effector genes at GWAS loci? Come to room 259A 11:45 TODAY to find out more #ASHG25

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GWAS Catalog @gwascatalog.bsky.social · 16/10/2025

Fascinating work from Olivia Gray at #ASHG25. A great example of how including diverse samples is key to making the link between genetic architecture and biological mechanisms, and translation to clinic.

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GWAS Catalog @gwascatalog.bsky.social · 15/10/2025

At #ASHG25 and want to meet members of the GWAS Catalog & PGS Catalog teams? Stop by the @impc-phenotypes.bsky.social booth 1420 where we're helping out!

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GWAS Catalog @gwascatalog.bsky.social · 14/10/2025

🚨 Countdown to #ASHG25: Predicted Effector Gene standard is coming! 🚨 Join us and be part of the conversation! 📌 Poster Oct 16 | 2:30–4:30 | Poster Hall 🗓️ Session Oct 17 | 11:45–1:15 | Room 259A Learn more: kpnashg2025.wordpress.com/pegs-workshop/

kpnashg2025.wordpress.com

PEGs Workshop

Friday, October 17th | 11:45AM – 1:15PM | Convention Center room 259A The meeting will open with an introduction (Noel Burtt), include a recap of the landscape analysis (Laura Harris), presentation…

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GWAS Catalog @gwascatalog.bsky.social · 08/10/2025

🧩 Toward a standard for Predicted Effector Genes → From PEG list to PEG matrix Join us at #ASHG2025 to know about the work done and future directions! WG materials: kp4cd.org/2024_PEG_wor... Learn more: kpnashg2025.wordpress.com/pegs-workshop/ #ASHG25 #EffectorGene #PEGstandard #AncillarySession

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GWAS Catalog @gwascatalog.bsky.social · 30/09/2025

GWAS finds millions of variants — but what are the Predicted Effector Genes (PEGs)? Our Nature Genetics Perspective rdcu.be/eoqVk showed big inconsistencies. At ASHG 2025, we’ll introduce a new standard to make PEG data FAIR. 🗓️ Ancillary Session: Oct 17 | 11:45 | Room 259A 📌Poster: Oct 16 | 2:30

rdcu.be

Realizing the promise of genome-wide association studies for effector gene prediction

Nature Genetics - This Perspective argues that predicting effector genes for complex diseases is a key outcome of genetic association studies where standards are urgently needed to maximize...

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GWAS Catalog @gwascatalog.bsky.social · 19/09/2025

🌏 Shaping Together 🌏 Last year, we hosted a workshop on Predicted Effector Gene (PEG) lists - key data linking GWAS signals to biology 👉 kp4cd.org/2024_PEG_wor... This #ASHG25, we share a proposed PEG standard 🗓️ Ancillary Session: Oct 17 | 11.45AM | Room 259A 📌Poster: Oct 16 | 2:30PM | Poster Hall

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GWAS Catalog @gwascatalog.bsky.social · 16/09/2025

🚩1 MILLION curated associations!!! 🚩 Launched in 2008, took us 15 years to reach 500K, and thanks to your research and collaboration, we doubled the number in less than 3 years! See some data insights tinyurl.com/mw53njbb #OpenAccess

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GWAS Catalog @gwascatalog.bsky.social · 18/08/2025

🚨NEWS!! OUR REST API V2 IS OUT!!! 🚨 ✅Find more data available thanks to new endpoints ✅New search and filtering functionalities ✅Integration with resources like Ensembl REST API v1 available until May ’26 More details tinyurl.com/bdzdbyuu

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GWAS Catalog @gwascatalog.bsky.social · 07/08/2025

🚨 Join us at #ASHG25!🚨 We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent, reusable, and #FAIR. #HumanGenetics #GeneticsDiscoveries #EffectorGene #GWAS #FunctionalGenomics #PEGstandard👇

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GWAS Catalog @gwascatalog.bsky.social · 29/07/2025

We don't know the answer to this one....anyone else?

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Reposted by GWAS Catalog

Mallory Freeberg @malloryfreeberg.bsky.social · 23/07/2025

🧬 New @emblebi.bsky.social service beta launched: Perturbation Catalogue 🔎 Browse genetic perturbation datasets 🧠 Train models 🧬 Interpret variant function 🧭 Explore gene dependencies Search, test APIs, suggest datasets, send feedback! 🔗 www.ebi.ac.uk/perturbation... Funded by @opentargets.org

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GWAS Catalog @gwascatalog.bsky.social · 16/07/2025

🚨 IMPORTANT UPDATE 🚨 👩🏻‍💻👨🏻‍💻Work on #gwas? 📊Did you submit your #SumStats (bit.ly/38rNSjx) or are you planning to do so? Now you can ALSO submit the top associations to be included in the GWAS Catalog! Just follow the link in your submission confirmation email for more details!👇👇

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Reposted by GWAS Catalog

David Ochoa @d0choa.bsky.social · 18/06/2025

🚀 The Summer ☀️ @opentargets.org Platform release is here! If you thought the last update was big… just wait till you see what’s inside. A quick thread on the highlights 👇

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Reposted by GWAS Catalog

EMBL-EBI @ebi.embl.org · 16/06/2025

If EMBL-EBI managed data resources have ever saved you time & effort, this is your chance to give back! Fill in a 15-minute survey to help us: 🌍Demonstrate the real-world impact of our resources 🤓Understand your needs 🌟Secure continued funding Closes 16 July www.surveymonkey.com/r/QGFMBH8?ch...

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Mike Inouye @mikeinouye.bsky.social · 12/06/2025

❓Has anyone looked at the overlap between MVP and All of Us? Big enough to worry about when training/testing PGS? cc @sritchie73.bsky.social @iamslambert.bsky.social

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EMBL-EBI @ebi.embl.org · 09/06/2025

Polygenic scores (PGS) offer insights into a person’s inherited risk of disease. GeneticScores.org is a new platform that enables secure, cloud-based calculation of polygenic scores to make genomic risk prediction more accessible. www.ebi.ac.uk/about/news/u... 🖥️🧬

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GWAS Catalog @gwascatalog.bsky.social · 22/05/2025

We’re getting excited for #ESHG2025! Check out poster EP18.012 to be first to find out about the GWAS Catalog REST API v2.0!! Supporting programmatic access to our data, the REST API has been completely redesigned according YOUR feedback. Try it out and let us know what you think!

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Reposted by GWAS Catalog

The Polygenic Score Catalog @pgscatalog.bsky.social · 20/05/2025

Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!

pgscatalog.org

PGS Catalog - PGS005205 / Prostate cancer (Polygenic Score)

The Polygenic Score (PGS) Catalog is an open database of published PGS and the relevant metadata needed to apply and evaluate them correctly.

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Reposted by GWAS Catalog

Ensembl @ensembl.org · 07/05/2025

Ensembl release 114 is now out! We have now updated human data to MANE v1.4, new and exciting rodents, livestock, plants and insect genome 🐀 🐈‍⬛ 🪲, lots of species with variation data (@evarchive) and much more! More details on our blog (tinyurl.com/3v7cz2sm)%22 #Genomes #bioinformatics

tinyurl.com

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GWAS Catalog @gwascatalog.bsky.social · 03/04/2025

MAINTENANCE ALERT! GWAS Catalog trait pages are currently failing to load. Our infrastructure team are working to fix it 🤞

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GWAS Catalog @gwascatalog.bsky.social · 19/03/2025

Dig further into GWAS data on the NEW Open Targets platform! Congrats to the @opentargets.org team on the new release!

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The Polygenic Score Catalog @pgscatalog.bsky.social · 04/03/2025

📣 Excited to share our new tutorial with @training.ebi.embl.org ! The course covers the basics of polygenic scores and describes the PGS Catalog resources (buff.ly/L8e6a3J, including pgsc_calc), a great overview of the area. Access the course online at buff.ly/CEBWMio!

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GWAS Catalog @gwascatalog.bsky.social · 13/02/2025

Are you interested in GxE interaction #gwas? Now, you can identify and filter them on our website! Check the great review made by @genandgenes.bsky.social et al. at @johnshopkinssph.bsky.social They also analysed the data we hosted and showed a lack of #SumStats available. tinyurl.com/bdfmsmtd

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GWAS Catalog @gwascatalog.bsky.social · 06/02/2025

Did you know? We are a Global Core Biodata Resource! Read Global BioData's white paper regarding working collaboratively for funding and sustainability: tinyurl.com/bdhxtnkr Blog about it: bit.ly/3EoWUTj #openaccess #biodata

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GWAS Catalog @gwascatalog.bsky.social · 04/02/2025

It is #WorldCancerDay and you can access ~ 2500 #gwas linked to cancer, with close to 1,100 of them with #SumStats. THANKS for helping us to increase the data available following #FAIRprinciples. Share your data bit.ly/38rNSjx #OpenAccess

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GWAS Catalog @gwascatalog.bsky.social · 29/01/2025

At #fog2025 @markeffingham @ukbiobank.bsky.social is giving updates about #UKBiobank Did you know we are hosting more than 38K #gwas from UK Biobank lot of them with #SumStats? Access them through website and API, submit your data bit.ly/38rNSjx #openaccess

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