✨ #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#ELIXIR #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 🧬💻

🇪🇬 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

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

📣 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/

🧬💻 We're hiring a #Software #Developer @emblebi.bsky.social! Join the @deciphergenomics.bsky.social team building tools for global rare disease diagnosis & research. Work that matters, in a collaborative environment. 👉 Apply: embl.wd103.myworkdayjobs.com/en-US/EMBL/j... ⏰ Deadline: 10 August

🧬💻 We're hiring a #Bioinformatics #Developer @emblebi.bsky.social! Join the @ensembl.bsky.social Variation team building open-source tools to support global research & clinical genomics. Collaborative team; real impact. 👉 Apply: embl.wd103.myworkdayjobs.com/en-US/EMBL/j... ⏰ Deadline: 10 August

So proud to represent our amazing teams and resources in the Human Genomics Team and beyond 🫶🏼

The Perturbation Catalogue is here! A new platform unifying perturbation data from CRISPR screens, multiplexed variant effect assays and gene expression data in one place. The beta version is now live. Find out more and try the platform: www.ebi.ac.uk/about/news/u... 🧬🖥️

🧬 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

EMBL-EBI will be at #ISMB2025! Visit us at our booth, meet our scientists, and find out about our latest training, services, research highlights and more.

The UK Govt just released its 10 year plan for the NHS and it is legitimately ambitious and exciting. Genomic population health features heavily... on the cover even! assets.publishing.service.gov.uk/media/686638...

Postdoc position in our group at @ebi.embl.org about analyzing single cell data sets to better understand and treat neurodegen diseases, in collab with A Bassett, M Lotfollahi, @bayraktarlab.bsky.social, M Strauss and others within Open Targets. Deadline 20/07. Please share tinyurl.com/87wj466m

Join us for our upcoming Fireside Chat on 11 July 2025 at 13:00 UTC with Tim Hubbard and Serena Scollen of @elixir-europe.org‬! Register for the event:

We have co-organized a MAVE course with Wellcome Connecting Science! Meeting is in November, but the 🗓️📝Application deadline is 18 August 2025 ⏰https://coursesandconferences.wellcomeconnectingscience.org/event/multiplex-assays-of-variant-effects-maves-approaches-analysis-and-interpretation-20251123/

Two exciting jobs open now: 🧬 Genebuild Project Leader Apply: www.ensembl.info/2025/06/02/j... ⏳ Closes: 30 June 2025 🔗 Dataflow Coordinator Apply: www.ensembl.info/2025/06/09/j... ⏳ Closes: 6 July 2025 #Genomics #Bioinformatics #Jobs

Used EMBL-EBI data resources to find, analyse, or archive your data? 🧬 Now’s your turn: tell us how you’ve used them + why they matter. It takes 15 mins and helps keep these services open and free for all. 👉 tinyurl.com/bdf73zpp Closes 16 July #opendata #FAIRdata

Policy Brief: will the UK participate in the European Health Data Space? In this brief, Miranda Mourby discusses questions that remain, following publication of the European Health Data Space Regulation text, related to participation from outside of the EU. Read more: www.ga4gh.org/news_item/po...

#Genes #variants #phenotypes, oh my! @ebi.embl.org Human Genomics Team services presented at #CCG2025: 🔍@gene2phenotype.bsky.social (G2P) - accelerating genomic medicine w/ high-confidence, evidence-based gene-disease models www.ebi.ac.uk/gene2phenoty...

🔧 decoupler 2.0.6 is out thanks to @paubadiam.bsky.social‬, now as a core @scverse.bsky.social package scverse.org This release includes a streamlined API aligned with scverse standards, updated vignettes, and a new one on pseudotime enrichment analysis 👇 decoupler.readthedocs.io/en/latest/

Today is Day 2 of Curating the Clinical Genome organised by @deciphergenomics.bsky.social and hosted by @eventswcs.bsky.social 🫶 Come visit poster 15 - I would love to talk to you about how the fabulous members of the @ga4gh.org community are accelerating clinical genomics! 🌱 #CCG2025

👋 I'll be in Exeter for the @uk-fgx.bsky.social Inaugural Scientific Symposium 16 June & London for the @genomicsengland.bsky.social Research Summit 17 June. I'd love to chat about @ebi.embl.org resources like @ensembl.bsky.social, @deciphergenomics.bsky.social, and the Perturbation Catalog! 🧬 💻

Pangenome-aware DeepVariant www.biorxiv.org/content/10.1... 🧬🖥️🧪 github.com/google/deepv...

Please sign the Bethesda Declaration: A Call for NIH and HHS Leadership to Deliver on Promises of Academic Freedom and Scientific Excellence www.standupforscience.net/bethesda-dec... Stand up for science!

We recently released a tool to help you with this. 🚀 Say hello to pridepy — your Python for grabbing data from the @pride-ebi.bsky.social! To search metadata or download files via FTP, Aspera, Globus, or S3, and is perfect for bioinfo workflows. Check it out 👉 github.com/PRIDE-Archiv...

📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores www.nature.com/articles/s41... Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.

We have 2-3 group leader positions opening @fimm-uh.bsky.social !! We are looking for outstanding candidates in human genetics and precision medicine. This time we have a focus on population health data science. E.g. AI for EHR/health data        Generous starting package 💰 shorturl.at/FAk6n

I have an opportunity to hire a staff scientist for my lab. Looking for someone with outstanding skillset in ML/statistics, genomics applications; interest in mentoring, strong publication record, PD experience required. Email CV to me+cc my assistant (see 'contact' on my website). Ad to follow.

📣 ELIXIR has released an updated international strategy to guide its engagement and #collaborations beyond Europe 🌍. Find out how 🙌 ELIXIR will work with international initiatives and partner regions worldwide to address #lifescience data challenges 👉 elixir-europe.org/news/interna...

📢 Today is #WorldMSDay, an opportunity to raise awareness about #MultipleSclerosis and support projects that contribute to new research and clinical advancements in the diagnosis, treatment, and prevention of multiple sclerosis

NB: The Polygenic Score Catalog has just lost its NIH funding. It was substantial. We are now on auxillary funding sources. If anyone has a spare £1m plz DM

Shape the future of #biodiversity genomics at scale - a new conference for understanding life! #Biodiversity25 Join peers working with #eukaryotic genomes and genome reference resources, to share challenges and discoveries. 🗓️ 27-29 October 2025 📎 bit.ly/4j3vAZ9 📩Submit an abstract by 14 July