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...

A lab away from home | EMBL

The EMBL Sabbatical Fellowship Programme keeps growing, offering participants collaborative insights and access to world-class technology.

embl.org

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 🧬💻

EMBL-EBI@ebi.embl.org · 10mo ago

Growth charts guide child healthcare, but standard charts often don’t reflect the growth patterns of children with rare conditions. A new method, LMSz, creates condition-specific growth charts and is being integrated in @deciphergenomics.bsky.social www.ebi.ac.uk/about/news/t... 🧬💻

🇪🇬 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!

Rare Disease Research UK@rdrukhub.bsky.social · 12mo ago

🏆The Early Career Researcher Award in PPIE is back for year two! 🤝Do you know a young researcher who is or has meaningfully and effectively involved your community in their research? Share this opportunity with your networks! Find out more & apply tinyurl.com/ECRaward25

🚨 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/

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

🧬💬 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/

HEREDITARY@hereditaryeu.bsky.social · 10mo ago

✨ Big week ahead for the HEREDITARY project! 🧬 #RIES2025 in La Toja, Galicia on October 15-16 with Abeer Fadda (EGA) and an HEREDITARY stand in the exhibition area. 🧠 #BIDays2025 in Brussels, where HEREDITARY will host a World Café. 🔍 https://acortar.link/zlqN2H

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...

EGA archive@egaarchive.bsky.social · 10mo ago

📢 We are excited to announce the incoming launch of the EGA Newsletter! Sign up now to stay updated on the latest news related to Federated EGA, Beacon, along with highlights and updates on the ongoing projects we are involved in 🙌 👉 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

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...

Release v0.0.34 - DIANN and MaxDIA support · bigbio/pmultiqc

What's Changed fix bugs and add plots for mzid by @yueqixuan in #295 Multiple fix in mzidentml by @ypriverol in #296 MaxQuant: Fix NaN intensity errors by @cbielow in #304 Fix bug in proteobench_u...

github.com

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

Home

broadinstitute.swoogo.com

💡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

@deciphergenomics.bsky.social · 11mo ago

DECIPHER version 11.34 has been released. See the new features at 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...

ASHG 2025 Workshop: The Human Pangenome: Data, Tools, and Workflows

Introducing participants to the new Human Pangenome Reference, how samples were chosen to maximize variation, & technologies used to build the pangenome

ashg.org

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... 🖥️🧬

Welcome: Tim Coorens

EMBL-EBI’s newest Research Group Leader is investigating how somatic mutations reveal the hidden histories of human cells.

ebi.ac.uk

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...

Blood taken from Danish babies ended up in huge genetic study—without consent

The iPsych project, which investigates the genetics of psychiatric disorders, has sent 140,000 opt-out notices amid backlash

science.org

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.

EMBL-EBI-Sanger postdoctoral fellowships (ESPOD)

The ESPOD fellowship builds on the collaborative relationship between EMBL-EBI and the Wellcome Sanger Institute, offering projects that combine experimental (wet-lab) and computational (dry-lab) appr...

ebi.ac.uk

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

📣 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...

Group Leader - Genome Biology Unit

Are you ready to lead groundbreaking research in Genome Biology? Join us at EMBL! We are seeking a motivated scientist to lead an independent research group addressing exciting and original biological...

embl.wd103.myworkdayjobs.com

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/