Human Genome-wide Association Studies Problems: [email protected] Submission: https://nitter.cf/t.co/2HjFpd73C9 Citation: https://nitter.cf/t.co/W18y9n0LrM Also LinkedIn/Bluesky
EMBL-EBI, Hinxton, UK
Joined February 2015
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🚨Reminder🚨
Accessing GWAS Catalog data programmatically? Try our new REST API with more features & improved design:
📖 Docs: ebi.ac.uk/gwas/rest/api/v2/d…
✎ Interactive workbook: tinyurl.com/5ak3hfzc
⏰ V1 deactivates May 2026 - migrate now!
#GWAS #GWASCatalog #Bioinformatics
🚨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
📍 Meet the GWAS Catalog team at #ASHG in Montréal, alongside IMPC & Ensembl, Booth 306!
Chat with us about the GWAS & PGS Catalogs:
🔍 CNV & gene-based submissions
🧩 PEGASUS effector gene standards
🤖 Our AI tools & MCP server
🧬 PGS Catalog Calculator
Come say hello! 👋
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! 📄
🚧 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/submissi…
NHGRI-EBI GWAS Catalog retweeted
🔗link to the paper: nature.com/articles/s41588-0…
📊GWAS summary stats on @GWASCatalog: ebi.ac.uk/gwas/studies/GCST9…
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
ebi.ac.uk/gwas/mcp
NHGRI-EBI GWAS Catalog retweeted
🚨 A new community framework for Effector Gene reporting, PEGASUS, is available! @GWASCatalog
🧬This organizes and shares predicted effector gene resources in a more consistent, transparent, and reusable way.
💻 Read the preprint: biorxiv.org/content/10.64898…
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: biorxiv.org/content/10.64898…
#GWAS #Genomics #OpenScience
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
🚀 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 #DataSharing
🔗link to the paper: nature.com/articles/s41588-0…
📊summary stats: ebi.ac.uk/gwas/ accession numbers GCST90704646, GCST90704647 and GCST90704648
NHGRI-EBI GWAS Catalog retweeted
🔗link to the paper: nature.com/articles/s41588-0…
📊summary stats: ebi.ac.uk/gwas/ accession numbers GCST90704646, GCST90704647 and GCST90704648
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.
ebi.ac.uk/gwas/apps/beyond-s…
777 studies, 745 with summary statistics - the Genes & Health WES study is now in the GWAS Catalog, aiming to improve health outcomes for South Asian populations. Go explore 👇
ebi.ac.uk/gwas/publications/…
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
We put the #GWAS Catalog on Hugging Face.
huggingface.co/gwascatalog
📦 gwascatalog/associations - 1M+ rows
📦 gwascatalog/studies - 200k+ studies
📦 gwascatalog/samples - 275k+ sample population descriptors
Parquet, #Data Studio preview, datasets library compatible.
#healthdata🧬
GWAS Catalog API reminder: v2 is live now, and v1 is scheduled for deactivation in May 2026. Please migrate and test your workflows early.
Docs: ebi.ac.uk/gwas/rest/api/v2/d…
ALT Timeline graphic showing API transition from now to May 2026, emphasizing migration to GWAS Catalog API v2.
NHGRI-EBI GWAS Catalog retweeted
🔗📊Links to papers and summary statistics:
1⃣ paper: nature.com/articles/s41588-0…
summ stats (excluding 23andMe): pgc.unc.edu/for-researchers/…
2⃣ paper: nature.com/articles/s41588-0…
summ stats: metaresults-ukbb.finngen.fi/
3⃣ papers: nature.com/articles/s41588-0… & nature.com/articles/s41588-0…
summ stats: @GWASCatalog, accession numbers GCST90670368-GCST90671939 (Swedish cohorts) & GCST90666541–GCST90667549 (HUNT)
4⃣ paper: nature.com/articles/s41467-0…
summ stats: @GWASCatalog, accession codes GCST90809868-GCST90809877
5⃣ paper: nature.com/articles/s41467-0…
summ stats: zenodo.org/records/17141085
6⃣ paper: nature.com/articles/s41467-0…
summ stats: doi.org/10.5281/zenodo.18537…
GWAS Catalog API v1 no longer supported from May 2026.
If your tools depend on it, migrate to v2 now. It's faster, more reliable, and gives you better query precision. 🧬#genomics
ebi.ac.uk/gwas/rest/api/v2/d…
Come say hi to our Technical Project Lead, Abayomi Mosaku and learn about our improved API! #FOG2026
