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
www.ebi.ac.uk/gwas
Submit your #gwas data on http://bit.ly/38rNSjx
#OpenAccess #FAIRprinciples
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📌.
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📌.
November 17, 2025 at 11:03 AM
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📌.
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📌.
Reposted by GWAS Catalog
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.
www.PGSCatalog.org
November 11, 2025 at 5:41 PM
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!
🚨 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
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
November 5, 2025 at 3:59 PM
🚨 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
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 👇
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 👇
October 23, 2025 at 4:26 PM
🚨 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 👇
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
October 17, 2025 at 11:12 AM
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.
October 16, 2025 at 3:40 PM
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!
October 15, 2025 at 7:20 PM
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/
📌 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
October 14, 2025 at 8:24 AM
🚨 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/
📌 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/
🧩 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
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
October 8, 2025 at 4:35 PM
🧩 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
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
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
September 30, 2025 at 8:51 PM
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
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
🌏 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
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
September 19, 2025 at 2:31 PM
🌏 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
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
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
September 16, 2025 at 1:12 PM
🚩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
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
✅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
August 18, 2025 at 9:06 AM
🚨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
✅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👇
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👇
August 7, 2025 at 8:08 AM
🚨 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👇
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👇
We don't know the answer to this one....anyone else?
Does anyone know who first used the term "Manhattan Plot"?
Wikipedia links to a 2010 paper by Greg Gibson. I haven't yet found an earlier use, but Greg's phrasing suggests that he did not invent the term.
doi.org/10.1038/ng07...
Wikipedia links to a 2010 paper by Greg Gibson. I haven't yet found an earlier use, but Greg's phrasing suggests that he did not invent the term.
doi.org/10.1038/ng07...
Hints of hidden heritability in GWAS - Nature Genetics
Although susceptibility loci identified through genome-wide association studies (GWAS) typically explain only a small proportion of the heritability, a classical quantitative genetic analysis now argu...
doi.org
July 29, 2025 at 8:09 AM
We don't know the answer to this one....anyone else?
Reposted by GWAS Catalog
🧬 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
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
July 23, 2025 at 10:06 AM
🧬 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
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
🚨 IMPORTANT UPDATE 🚨
👩🏻💻👨🏻💻Work on #gwas?
📊Did you submit your #SumStats (bit.ly/38rNSjx) or are you planning to do so?
Now you can ALSO submit the top associations to be included in the GWAS Catalog!
Just follow the link in your submission confirmation email for more details!👇👇
👩🏻💻👨🏻💻Work on #gwas?
📊Did you submit your #SumStats (bit.ly/38rNSjx) or are you planning to do so?
Now you can ALSO submit the top associations to be included in the GWAS Catalog!
Just follow the link in your submission confirmation email for more details!👇👇
July 16, 2025 at 12:57 PM
🚨 IMPORTANT UPDATE 🚨
👩🏻💻👨🏻💻Work on #gwas?
📊Did you submit your #SumStats (bit.ly/38rNSjx) or are you planning to do so?
Now you can ALSO submit the top associations to be included in the GWAS Catalog!
Just follow the link in your submission confirmation email for more details!👇👇
👩🏻💻👨🏻💻Work on #gwas?
📊Did you submit your #SumStats (bit.ly/38rNSjx) or are you planning to do so?
Now you can ALSO submit the top associations to be included in the GWAS Catalog!
Just follow the link in your submission confirmation email for more details!👇👇
Reposted by GWAS Catalog
🚀 The Summer ☀️ @opentargets.org Platform release is here!
If you thought the last update was big… just wait till you see what’s inside.
A quick thread on the highlights 👇
If you thought the last update was big… just wait till you see what’s inside.
A quick thread on the highlights 👇
June 18, 2025 at 5:55 PM
🚀 The Summer ☀️ @opentargets.org Platform release is here!
If you thought the last update was big… just wait till you see what’s inside.
A quick thread on the highlights 👇
If you thought the last update was big… just wait till you see what’s inside.
A quick thread on the highlights 👇
Reposted by GWAS Catalog
If EMBL-EBI managed data resources have ever saved you time & effort, this is your chance to give back!
Fill in a 15-minute survey to help us:
🌍Demonstrate the real-world impact of our resources
🤓Understand your needs
🌟Secure continued funding
Closes 16 July
www.surveymonkey.com/r/QGFMBH8?ch...
Fill in a 15-minute survey to help us:
🌍Demonstrate the real-world impact of our resources
🤓Understand your needs
🌟Secure continued funding
Closes 16 July
www.surveymonkey.com/r/QGFMBH8?ch...
June 16, 2025 at 10:20 AM
If EMBL-EBI managed data resources have ever saved you time & effort, this is your chance to give back!
Fill in a 15-minute survey to help us:
🌍Demonstrate the real-world impact of our resources
🤓Understand your needs
🌟Secure continued funding
Closes 16 July
www.surveymonkey.com/r/QGFMBH8?ch...
Fill in a 15-minute survey to help us:
🌍Demonstrate the real-world impact of our resources
🤓Understand your needs
🌟Secure continued funding
Closes 16 July
www.surveymonkey.com/r/QGFMBH8?ch...
Reposted by GWAS Catalog
❓Has anyone looked at the overlap between MVP and All of Us? Big enough to worry about when training/testing PGS?
cc @sritchie73.bsky.social @iamslambert.bsky.social
cc @sritchie73.bsky.social @iamslambert.bsky.social
June 12, 2025 at 2:59 PM
❓Has anyone looked at the overlap between MVP and All of Us? Big enough to worry about when training/testing PGS?
cc @sritchie73.bsky.social @iamslambert.bsky.social
cc @sritchie73.bsky.social @iamslambert.bsky.social
🚨Interested in which genes are the true effectors behind the scenes of the #gwas results? 🚨
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
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 utility, improve interoperab...
tinyurl.com
June 11, 2025 at 9:01 AM
🚨Interested in which genes are the true effectors behind the scenes of the #gwas results? 🚨
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
This new publication in Nature Genetics, a collaboration between @broadinstitute.org @ebi.embl.org @opentargets.org focuses on approaches to predicted effector gene reporting tinyurl.com/98yxy4hf (1/3) 👇
Reposted by GWAS Catalog
Polygenic scores (PGS) offer insights into a person’s inherited risk of disease.
GeneticScores.org is a new platform that enables secure, cloud-based calculation of polygenic scores to make genomic risk prediction more accessible.
www.ebi.ac.uk/about/news/u...
🖥️🧬
GeneticScores.org is a new platform that enables secure, cloud-based calculation of polygenic scores to make genomic risk prediction more accessible.
www.ebi.ac.uk/about/news/u...
🖥️🧬
June 9, 2025 at 11:21 AM
Polygenic scores (PGS) offer insights into a person’s inherited risk of disease.
GeneticScores.org is a new platform that enables secure, cloud-based calculation of polygenic scores to make genomic risk prediction more accessible.
www.ebi.ac.uk/about/news/u...
🖥️🧬
GeneticScores.org is a new platform that enables secure, cloud-based calculation of polygenic scores to make genomic risk prediction more accessible.
www.ebi.ac.uk/about/news/u...
🖥️🧬
We’re getting excited for #ESHG2025! Check out poster EP18.012 to be first to find out about the GWAS Catalog REST API v2.0!! Supporting programmatic access to our data, the REST API has been completely redesigned according YOUR feedback. Try it out and let us know what you think!
May 22, 2025 at 5:04 PM
We’re getting excited for #ESHG2025! Check out poster EP18.012 to be first to find out about the GWAS Catalog REST API v2.0!! Supporting programmatic access to our data, the REST API has been completely redesigned according YOUR feedback. Try it out and let us know what you think!
Reposted by GWAS Catalog
Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!
May 20, 2025 at 1:31 PM
Interested in the results of the BARCODE PRS-guided prostate cancer screening study last month in @nejm.org? Just added to the Catalog is the PRS that was used in the cohort: www.pgscatalog.org/score/PGS005.... This and more in the latest release!
Reposted by GWAS Catalog
Ensembl release 114 is now out! We have now updated human data to MANE v1.4, new and exciting rodents, livestock, plants and insect genome 🐀 🐈⬛ 🪲, lots of species with variation data (@evarchive) and much more!
More details on our blog (tinyurl.com/3v7cz2sm)%22
#Genomes #bioinformatics
More details on our blog (tinyurl.com/3v7cz2sm)%22
#Genomes #bioinformatics
https://tinyurl.com/3v7cz2sm)"
May 7, 2025 at 2:58 PM
Ensembl release 114 is now out! We have now updated human data to MANE v1.4, new and exciting rodents, livestock, plants and insect genome 🐀 🐈⬛ 🪲, lots of species with variation data (@evarchive) and much more!
More details on our blog (tinyurl.com/3v7cz2sm)%22
#Genomes #bioinformatics
More details on our blog (tinyurl.com/3v7cz2sm)%22
#Genomes #bioinformatics