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GWAS Catalog @gwascatalog.bsky.social · 20h

🧩 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

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GWAS Catalog @gwascatalog.bsky.social · 8d

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

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GWAS Catalog @gwascatalog.bsky.social · 19d

🌏 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

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GWAS Catalog @gwascatalog.bsky.social · 22d

🚩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

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GWAS Catalog @gwascatalog.bsky.social · Aug 27

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!

Community Working Group on standards and infrastructure for predicted effector gene matrices and lists | Knowledge Portal Network

kp4cd.org

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GWAS Catalog @gwascatalog.bsky.social · Aug 18

🚨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

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GWAS Catalog @gwascatalog.bsky.social · Aug 7

🧬 Whether you build or use PEG lists, this is your moment to lead. Let’s make PEG data truly work for the community!
#ASHG #EffectorGene #GenePrioritisation #FunctionalGenomics #datastandard #OpenAccess

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GWAS Catalog @gwascatalog.bsky.social · Aug 7

What you'll get:
✅ Reusable PEG matrix framework pointing to key genes
✅ Real examples of enhanced PEG knowledge sharing
✅ Practical framework for #FAIR genomics data
✅ Your voice in shaping the standard!

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GWAS Catalog @gwascatalog.bsky.social · Aug 7

🚨 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👇

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GWAS Catalog @gwascatalog.bsky.social · Jul 29

We don't know the answer to this one....anyone else?

Jonathan Pritchard @jkpritch.bsky.social · Jul 28

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...

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

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GWAS Catalog @gwascatalog.bsky.social · Jul 28

Please contact our helpdesk and we'll be very happy to assist! You can find the contact details and also the citation for the Diagram here: www.ebi.ac.uk/gwas/docs/ab...

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

www.ebi.ac.uk

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Reposted by GWAS Catalog

Mallory Freeberg @malloryfreeberg.bsky.social · Jul 23

🧬 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

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GWAS Catalog @gwascatalog.bsky.social · Jul 16

Find all the details of the Nature Genetics publication by researchers at @oxfordstatistics.bsky.social and @sangerinstitute.bsky.social in the publication page tinyurl.com/37p6789v

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

tinyurl.com

GWAS Catalog @gwascatalog.bsky.social · Jul 16

Follow @yiorkala.bsky.social's example and submit your data directly.
🚀 Make your data available faster and help sustain the @GWASCatalog for the future

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

tinyurl.com

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GWAS Catalog @gwascatalog.bsky.social · Jul 16

🚨 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!👇👇

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Reposted by GWAS Catalog

David Ochoa @d0choa.bsky.social · Jun 18

🚀 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 👇

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Reposted by GWAS Catalog

EMBL-EBI @ebi.embl.org · Jun 16

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...

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Reposted by GWAS Catalog

Mike Inouye @mikeinouye.bsky.social · Jun 12

❓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

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GWAS Catalog @gwascatalog.bsky.social · Jun 11

Contact us for feedback and be part of the ongoing discussions with the community! More details about the Working Group on tinyurl.com/3fctx5pe

#FAIRdata

Community Working Group on standards and infrastructure for predicted effector gene matrices and lists | Knowledge Portal Network

tinyurl.com

GWAS Catalog @gwascatalog.bsky.social · Jun 11

We found:
✅ Effector gene prediction is an evolving science
✅ Evidence types are organised into “variant-centric” and “gene-centric”

✅ Highlighted inconsistencies across current approaches and data formats
✅ Suggest best practices and forward-looking standards
(2/3) 👇

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GWAS Catalog @gwascatalog.bsky.social · Jun 11

🚨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) 👇

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

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Reposted by GWAS Catalog

EMBL-EBI @ebi.embl.org · Jun 9

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...

🖥️🧬

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GWAS Catalog @gwascatalog.bsky.social · May 22

Not at ESHG? Don’t worry, we’ll be posting MUCH more about this in the coming weeks

GWAS Catalog @gwascatalog.bsky.social · May 22

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!

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Reposted by GWAS Catalog

The Polygenic Score Catalog @pgscatalog.bsky.social · May 20

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!

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