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GWAS Catalog

@gwascatalog

The NHGRI-EBI Catalog of genome-wide association studies (GWAS) www.ebi.ac.uk/gwas Submit your #gwas data on http://bit.ly/38rNSjx #OpenAccess #FAIRprinciples

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12.12.2023
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Latest posts by GWAS Catalog @gwascatalog

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

09.02.2026 12:04 πŸ‘ 2 πŸ” 1 πŸ’¬ 0 πŸ“Œ 0
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Come say hi to our Technical Project Lead, Abayomi Mosaku and learn about our improved API! #FOG2026

28.01.2026 12:50 πŸ‘ 0 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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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

28.01.2026 10:49 πŸ‘ 6 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0
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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

22.12.2025 18:13 πŸ‘ 1 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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

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/

15.12.2025 15:44 πŸ‘ 9 πŸ” 7 πŸ’¬ 1 πŸ“Œ 0
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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...

11.12.2025 13:22 πŸ‘ 2 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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Open Targets Platform 25.12 has been released! The latest release of the Platform, and our last one of the year β€” 25.12 β€” is now available at platform.opentargets.org. Key points * Following a GWAS Catalog update, this release contains over 1....

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... 🧬πŸ–₯️

10.12.2025 13:01 πŸ‘ 3 πŸ” 2 πŸ’¬ 0 πŸ“Œ 0

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!

09.12.2025 09:51 πŸ‘ 1 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0

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

01.12.2025 12:58 πŸ‘ 3 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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

The GWAS Catalog V2 REST API may have what you need: ebi.ac.uk/gwas/rest/ap... Please reach out to our helpdesk if you need more information!

18.11.2025 14:41 πŸ‘ 1 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
2025 ASHG Ancillary Session | Predicted Effector Gene Aggregation, Standards, and Unified Schema (PEGASUS) Framework. Predicted Effector Gene (PEGASUS) Workshop

We’re excited to keep developing PEGASUS together - join us and access materials on our GitHub community page !
πŸ‘‰ bit.ly/47QN07Y

17.11.2025 11:02 πŸ‘ 2 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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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 evidenceπŸ•΅οΈ & conclusionπŸ“Œ.

17.11.2025 11:02 πŸ‘ 4 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0
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.

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!

11.11.2025 17:41 πŸ‘ 7 πŸ” 5 πŸ’¬ 1 πŸ“Œ 0
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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

05.11.2025 15:59 πŸ‘ 1 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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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

05.11.2025 15:59 πŸ‘ 0 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0
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🚨 NEWS! The GWAS Catalog Diagram is back up! 🚨
Smoother, faster loading for filtered views!
πŸ—ΊοΈ Explore now πŸ‘‰ 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

05.11.2025 15:59 πŸ‘ 9 πŸ” 5 πŸ’¬ 1 πŸ“Œ 0

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" βœ…

23.10.2025 16:26 πŸ‘ 0 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0

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. πŸ‘‡

23.10.2025 16:26 πŸ‘ 0 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0

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. πŸ‘‡

23.10.2025 16:26 πŸ‘ 0 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0
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🚨 Using the GWAS Catalog β€œAll associations” tsv download file? We recently made some changes that may affect your pipelines.

The data now includes >1m curated associations! This means the β€œAll associations” file is extremely large!

In the latest release, you now have a choice of two formats πŸ‘‡

23.10.2025 16:26 πŸ‘ 1 πŸ” 1 πŸ’¬ 1 πŸ“Œ 0
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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

17.10.2025 11:12 πŸ‘ 4 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
PheedLoop PheedLoop: Hybrid, In-Person & Virtual Event Software

I don't, but here is the abstract: meetings.ashg.org/event/ASHG25...

16.10.2025 18:52 πŸ‘ 0 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0
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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.

16.10.2025 15:40 πŸ‘ 4 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0
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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!

15.10.2025 19:20 πŸ‘ 5 πŸ” 2 πŸ’¬ 0 πŸ“Œ 0
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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…

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

14.10.2025 08:24 πŸ‘ 5 πŸ” 3 πŸ’¬ 0 πŸ“Œ 0
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🧩 Toward a standard for Predicted Effector Genes β†’ 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

08.10.2025 16:35 πŸ‘ 5 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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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...

GWAS finds millions of variants β€” 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.
πŸ—“οΈ Ancillary Session: Oct 17 | 11:45 | Room 259A
πŸ“ŒPoster: Oct 16 | 2:30

30.09.2025 20:51 πŸ‘ 10 πŸ” 2 πŸ’¬ 0 πŸ“Œ 0
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🌏 Shaping Together 🌏
Last year, we hosted a workshop on Predicted Effector Gene (PEG) lists - key data linking GWAS signals to biology
πŸ‘‰ kp4cd.org/2024_PEG_wor...
This #ASHG25, we share a proposed PEG standard
πŸ—“οΈ Ancillary Session: Oct 17 | 11.45AM | Room 259A
πŸ“ŒPoster: Oct 16 | 2:30PM | Poster Hall

19.09.2025 14:31 πŸ‘ 9 πŸ” 0 πŸ’¬ 0 πŸ“Œ 0
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🚩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

16.09.2025 13:12 πŸ‘ 15 πŸ” 3 πŸ’¬ 1 πŸ“Œ 0
Community Working Group on standards and infrastructure for predicted effector gene matrices and lists | Knowledge Portal Network

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!

27.08.2025 14:56 πŸ‘ 0 πŸ” 0 πŸ’¬ 1 πŸ“Œ 0