GWAS Catalog
@gwascatalog.bsky.social
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
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
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
🚀 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
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...
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...
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
ebi.ac.uk
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
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.
gwascatalog (GWAS Catalog)
Org profile for GWAS Catalog on Hugging Face, the AI community building the future.
huggingface.co
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...
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
ebi.ac.uk
Closed licences, closed doors. We're hosting a webinar with @kr21.bsky.social exploring how licensing shapes real-world research impact, from @opentargets.org to pandemic response. Speaker panel reveal soon 👀 🗓️ 14 April ⏰ 10:00 BST 🔗 embl-org.zoom.us/meeting/regi... #OpenScience #AcademicSky 🧪
Welcome! You are invited to join a meeting: Closed licences, closed doors: Open licensing, AI, and the future of research impact. After registering, you will receive a confirmation email about joining...
Open licensing and copyright are important aspects of publishing research, but what do they mean in practice? Creative Commons (CC) licences offer a standardised framework for sharing research outputs...
embl-org.zoom.us
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
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
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/
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
buff.ly
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...
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... 🧬🖥️
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....
blog.opentargets.org
🚨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
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
ebi.ac.uk
GWAS Catalog@gwascatalog.bsky.social · 12mo ago🚨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
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📌.
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!
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.
pgscatalog.org
🚨 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
🚨 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 👇
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
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.
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!
🚨 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/
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…
kpnashg2025.wordpress.com
🧩 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
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
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...
rdcu.be
🌏 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
🚩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
🚨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
🚨 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👇
