NHGRI-EBI GWAS Catalog

Human Genome-wide Association Studies

Problems: [email protected]
Submission: LinkedIn/Bluesky

[NHGRI-EBI GWAS Catalog @GWASCatalog]

🚨Reminder🚨
Accessing GWAS Catalog data programmatically? Try our new REST API with more features & improved design:
📖 Docs: https://t.co/dexxkNQtfu
✎ Interactive workbook: https://t.co/YEbAIPSXol
⏰ V1 deactivates May 2026 - migrate now!
#GWAS #GWASCatalog #Bioinformatics

[NHGRI-EBI GWAS Catalog @GWASCatalog]

🚨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 https://t.co/zOoO6MV8Vu

[NHGRI-EBI GWAS Catalog @GWASCatalog]

🚀 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

[NHGRI-EBI GWAS Catalog @GWASCatalog]

https://t.co/rDyzLo96Zy

[Marios Georgakis @MariosGeorgakis]

🔗link to the paper: https://t.co/5yPRKNKjAT
📊summary stats: https://t.co/9p2T0cU7Bp accession numbers GCST90704646, GCST90704647 and GCST90704648

[Marios Georgakis @MariosGeorgakis]

🔗link to the paper: https://t.co/5yPRKNKjAT
📊summary stats: https://t.co/9p2T0cU7Bp accession numbers GCST90704646, GCST90704647 and GCST90704648

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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.

https://t.co/IXKIQ7DGTF

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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 👇
https://t.co/DqkYVGNuKj

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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

[NHGRI-EBI GWAS Catalog @GWASCatalog]

We put the #GWAS Catalog on Hugging Face.
https://t.co/dvIez8oawJ

📦 gwascatalog/associations - 1M+ rows
📦 gwascatalog/studies - 200k+ studies
📦 gwascatalog/samples - 275k+ sample population descriptors

Parquet, #Data Studio preview, datasets library compatible.
#healthdata🧬

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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: https://t.co/dexxkNR152

[Marios Georgakis @MariosGeorgakis]

🔗📊Links to papers and summary statistics:

1⃣ paper: https://t.co/bLQ5VjKPaQ
summ stats (excluding 23andMe): https://t.co/4ZX2XVu2Zm

2⃣ paper: https://t.co/XXHXHYAkwi
summ stats: https://t.co/neycDoDr9t

3⃣ papers: https://t.co/2uB4nbRkxG & https://t.co/2YKKE61FRy
summ stats: @GWASCatalog, accession numbers GCST90670368-GCST90671939 (Swedish cohorts) & GCST90666541–GCST90667549 (HUNT)

4⃣ paper: https://t.co/TtL9qncmum
summ stats: @GWASCatalog, accession codes GCST90809868-GCST90809877

5⃣ paper: https://t.co/Txp3Akv0jn
summ stats: https://t.co/yhT32jXHV0

6⃣ paper: https://t.co/WkivwOTUMm
summ stats: https://t.co/qEtLqy2BeN

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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
https://t.co/0WpY8Ak3eJ

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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

[NHGRI-EBI GWAS Catalog @GWASCatalog]

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...

[NHGRI-EBI GWAS Catalog @GWASCatalog]

Join us TODAY 12 noon ET/6pm CET to learn about the PEGASUS standard for predicted effector genes. Webinar link: https://t.co/dRqDvBqNsP

[Common Metabolic Diseases Knowledge Portal @AMP_CMDKP]

📢 Join us TOMORROW to learn how the PEGASUS Framework brings FAIR, community-driven standards to reporting predicted effector genes from GWAS + integrative evidence.
🧬Benchmark results & share your experience!
⏰ Dec 11, 2025 | 12-1 PM ET 🔗https://t.co/qTMnbhMuG9
@GWASCatalog

[NHGRI-EBI GWAS Catalog @GWASCatalog]

@doctorveera We care. The best place for feedback is always our helpdesk [email protected]. We can help you troubleshoot, and detailed user stories help us make the case to funders.

[Common Metabolic Diseases Knowledge Portal @AMP_CMDKP]

🧬 Calling all GWAS + integrative analysis researchers!
🔎 Come explore the PEGASUS Framework, a FAIR community standard for predicted effector genes, at our Knowledge Portal Webinar with @GWASCatalog
⏰ Dec 11, 2025 | 12-1 PM ET
🔗https://t.co/sZ4WAcTm9o

[NHGRI-EBI GWAS Catalog @GWASCatalog]

@vishakh The GWAS Catalog V2 REST API may have what you need: https://t.co/Ysmjmg5ic6 Please reach out to our helpdesk if you need more information!

[NHGRI-EBI GWAS Catalog @GWASCatalog]

We’re excited to keep developing PEGASUS together - join us and access materials on our GitHub community page !
👉 https://t.co/9Jl3JcRi7d

[NHGRI-EBI GWAS Catalog @GWASCatalog]

A huge thank you to everyone who joined our #ASHG25🧬 ancillary session on the PEGASUS framework!
We were delighted to see the engagement & discussion around Predicted Effector Genes (PEG) and our new framework⊞ - for representing gene prioritisation evidence🔍 & conclusion📌.