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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

How to get involved? 👉 Use the PEGASUS standard when preparing data and publications to support better comparison, reproducibility, and reuse across studies. 👉 Submit through the PEG Data Registry kpndataregistry.org/peg - with planned future integration into the GWAS Catalog

kpndataregistry.org

KPN Data Registry

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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

Come say hi to our Technical Project Lead, Abayomi Mosaku and learn about our improved API! #FOG2026

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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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Reposted by GWAS Catalog

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 · 09/12/2025

It's on our roadmap to add tabulated case-control counts for all studies, but we can't give a timescale for that just yet. Great suggestion to add it to the browser, we'll keep that in mind!

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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

We recently passed 1 million curated SNP-trait associations! See how the GWAS Diagram has changed with the significant data growth. Contribute to our growing dataset and the diagram view by submitting your #SumStats and now also your top assoc. bit.ly/38rNSjx

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

What is the GWAS Catalog diagram? 🧬 Cytoband-trait association plot, now with: ✨ Non-overlapping in crowded regions ✨ Fully interactive (p ≤ 5e-8) ✨ Links to study, SNP & trait pages ✨ Filter by parent trait

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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

Want to recieve updates like this directly to your inbox? Sign up for our low-volume mailing list by sending an e-mail to gwas-announce-join@ebi.ac.uk with subject heading "subscribe" ✅

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

The split file facilitates analysis for users of Excel or other software which cannot handle >1m rows. Please note that data may continue to be added for previous years - you are advised to always work with the latest version of the complete file set. 👇

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

1. File now provided as a compressed .zip; data format unchanged. 2. Data split into multiple smaller files, and compressed together. The split file (2) is divided by publication year, with a separate file for each year from 2023 onwards, and pre-2023 data in a single file. 👇

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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 · 27/08/2025

hi Rohit! Sorry for the slow reply - you can find all the information here: kp4cd.org/2024_PEG_wor... including a contact link to sign up the mailing list. We'd love to hear from you!

kp4cd.org

Community Working Group on standards and infrastructure for predicted effector gene matrices and lists | Knowledge Portal Network

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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

🧬 Whether you build or use PEG lists, this is your moment to lead. Let’s make PEG data truly work for the community! #ASHG #EffectorGene #GenePrioritisation #FunctionalGenomics #datastandard #OpenAccess

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

What you'll get: ✅ Reusable PEG matrix framework pointing to key genes ✅ Real examples of enhanced PEG knowledge sharing ✅ Practical framework for #FAIR genomics data ✅ Your voice in shaping the standard!

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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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GWAS Catalog @gwascatalog.bsky.social · 28/07/2025

Please contact our helpdesk and we'll be very happy to assist! You can find the contact details and also the citation for the Diagram here: www.ebi.ac.uk/gwas/docs/ab...

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

110

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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