The second EGA newsletter is out!
🚀 Discover the insights from the #FederatedEGA Swedish Node (@nbis.se)
💥 Introducing FEGA Affiliate: a new way to become part of Federated EGA
💡 The Beacon Template UI is now available
There is much more to read in the latest issue!
➡️ mailchi.mp/130c2186dfd1...
Links to IEMbase and Treatable ID have moved – they can now be found on the new Therapies tab
Approved genetic drugs/therapies, from the @n1collaborative.bsky.social, N1C Gene Registry are now displayed in DECIPHER on a new Therapies tab - available from gene pages and patient records.
Links to @uniquecharity.bsky.social single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone
EMBL’s Sabbatical Fellowship Programme is slowly growing, attracting participants from around the world with its collaborative insights and access to world-class technologies.
www.embl.org/news/connect...
The new ShapeEmbed deep learning method helps quantify shapes in bioimages 🔬
It learns to encode 2D object outlines into descriptors that are invariant to several geometric transformations.
Great for robust cell shape analysis, classification & exploring phenotypes.
neurips.cc/virtual/2025...
🧬 HEREDITARY #XMAS Giveaway! ✨
To thank you all for your support throughout the year, the HEREDITARY project is celebrating the holiday season with a special giveaway of exclusive project materials!
Good luck to all, and happy holidays! ❄️🎁
✨ #ELIXIR is looking for a Head of Operations to lead the Operations team at the ELIXIR Hub and 🤝 coordinate the implementation of our scientific programme. Apply by 15 November 👉 https://loom.ly/0lpqg88
#ResearchInfrastructures #hiring
📣 Check out this cool new work to better represent and integrate growth data, including in the @deciphergenomics.bsky.social platform, to help children with rare genetic conditions 🧬💻
A traditional sailboat on the Nile river with palm trees and desert mountains in the background. EU and Egypt flags appear above, with the text ‘EU-EGYPT. HORIZON EUROPE’ below symbolizing their partnership.
🇪🇬 Egypt is a new strategic partner for the EU.
During the first EU-Egypt summit, the EU committed to:
💰€4 billion in Macro-Financial Assistance
💶€75 million to support of socio-economic reforms
Egypt joins #HorizonEU, unlocking opportunities for local researchers.
🔗 link.europa.eu/RphYTp
🏅 There’s less than a month left to apply for the ECR Award in PPIE — a great opportunity to recognise and celebrate early career researchers who are making real impact through patient and public involvement and engagement.
📣 Don’t miss out. Spread the word and share this with your networks!
🚨 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/
🧬💬 Tomorrow, Abeer Fadda, bioinformatics lead at the EGA - @crg.eu team and researcher in the @hereditaryeu.bsky.social project, will be participating in a roundtable on genomic medicine at #RIES2025
Check out the agenda ➡️ forumries.com/programa/
Stay updated with the latest EGA news by signing up for the newly launched EGA Newsletter! 🤩
Providing easy access the latest highlights and insights from EGA including about #FederatedEGA, @ga4gh.org engagements, international projects, and more 🙌
✏️ Sign up here: mailchi.mp/4c1f9c3a3030...
Heads up: ignore samtools dot org, similarly minimap2 dot com and likely others. It's owned by a known phishing site and while the binaries they offer look valid currently (but note they may be serving us different binaries to others), that could change.
Ie: it's not us (Samtools team)! Be warned
Homepage of the Ensembl Rapid Release site http://rapid.ensembl.org
Heads up! The Ensembl Rapid Release site (zurl.co/2iF0U) will be archived very soon.
All links to it will redirect to our new site: zurl.co/PMirU
The original data will remain accessible at zurl.co/9IQJv.
Questions? Reach us at helpdesk [at] ensembl.org
New release of pmultiqc v0.0.34 🚀🎉. github.com/bigbio/pmult..., highlights:
- A new contributor, Chris Bielow
- MaxDIA support, thanks @maxquant.bsky.social pmultiqc.quantms.org/MaxDIA/multi...
- DIANN reports way deeper thanks @vadim-demichev.bsky.social pmultiqc.quantms.org/DIANN/multiq...
Deadline approaching: register for GA4GH 13th Plenary in-person participation by 22 September.
Onsite registration will not be available. Virtual participation is free and open to all.
Learn more and register for the meeting: buff.ly/Iy5ocjo
💡Latest DECIPHER features!
⚛️ ProtVar (www.ebi.ac.uk/ProtVar/) links to functional annotations of missense variants
⚕️ ClinGen (clinicalgenome.org) VCEP Recommendations highlighted
📝 Descriptive names for gene & protein predictive scores
👉 More info www.deciphergenomics.org
#variantinterpretation
Very cool new feature in @deciphergenomics.bsky.social - direct link from any missense variant to ProtVar @ebi.embl.org. This variant is in the binding site and likely interacts with the ligand, predicted using AlphaFold with AlphaFill!
📣 GA4GH 13th Plenary panel spotlight: “Real-world implementation of GA4GH standards”
Learn about real-world examples highlighting how GA4GH tools and frameworks are powering interoperability and translating data sharing into action.
Register for GA4GH 13th Plenary: buff.ly/k1udEHJ
Headed to #ASHG25?
Don’t miss HPRC’s workshop on the Human Pangenome: Data, Tools & Workflows.
📅 Oct 14 | 10AM–12PM
Learn how to access data & use pangenome tools!
www.ashg.org/product/ashg...
Welcome @timcoorens.bsky.social 🇳🇱, our new Research Group Leader.
Find out how Tim’s group is exploring using large-scale single-cell and spatial data to trace cell lineages, understand cancer origins, and uncover how mutations drive disease.
www.ebi.ac.uk/about/news/p...
🖥️🧬
The iPSYCH study represents a unique example to understand the ethical and legal challenges of using existing samples/data for health research. A thread 🧵
www.science.org/content/arti...
Check out this opportunity to join my lab as a postdoc! www.ebi.ac.uk/research/pos...
Every year, faculty from EMBL-EBI and the Wellcome Sanger Institute co-develop projects that allow fellows to be part of ✨both✨ of these amazing research institutes.
Really cool read if you're into federated analysis in genomics 🧬 It clears up a lot of the jargon and makes it easier to get the bigger picture! rdcu.be/eyKGr
Image of an old building in Oxford with the heading 'postdoc opportunities' and the text 'computational approaches to improve rare disease diagnosis and treatment' and 'Big Data Institute, University of Oxford'
📣 We are recruiting! Please share!!
Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺
We have two roles available 👇
🧵 1/4
To all post-docs: The Genome Biology dept @embl.org
has an Independent faculty position. Fantastic place to set up your lab –great package: core funding, fantastic Ph.D. students, cutting edge core facilities & great colleagues. Closing date Sept 19th
embl.wd103.myworkdayjobs.com/en-US/EMBL/j...
A draft UAE-based Arab pangenome reference www.nature.com/articles/s41... 🧬🖥️🧪
🧬 Interested in variant interpretation?
#FunctionalGenomics #Pharmacogenetics #MutationalScanning #VariantEffectPredictor #RareDisease #Collaboration #PrecisionMedicine
Check out our list of publications!
📖 www.varianteffect.org/publications/
