We hope to see you there 🤝 And if you are unable to travel to Montreal, don't worry! Virtual registration is free:

➡️ broadinstitute.swoogo.com/connect26/be...

➡️ Building a Community Roadmap for Beacon v3.0
📍 Friday, April 17, 11:00 - 12:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Structural, categorical, and long-read–derived variation in Beacon: challenges and requirements for Beacon v3.0
📍 Friday, April 17, 9:00 - 10:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Building a translational bridge: a cross-community workshop on Beacon v2 and HL7 FHIR integration
📍 Thursday, April 16, 11:00 - 12:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Harmonising Categorical Variant Representation with the Beacon Protocol
📍 Wednesday, April 15, 14:00 - 15:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Future-proofing clinical data in Beacon: collaboratively reviewing next-gen phenotypic schemas
📍 Wednesday, April 15, 11:00 - 12:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

See you at the @ga4gh.org April Connect!

This annual event brings together members of the GA4GH community for collaboration, technical advancement and strategic reflection. Part of the Beacon team at EGA will be there this week, participating in several sessions: 🧵↘️

➡️ Structural, categorical, and long-read–derived variation in Beacon: challenges and requirements for Beacon v3.0
📍 Friday, April 17, 9:00 - 10:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Building a translational bridge: a cross-community workshop on Beacon v2 and HL7 FHIR integration
📍 Thursday, April 16, 11:00 - 12:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Harmonising Categorical Variant Representation with the Beacon Protocol
📍 Wednesday, April 15, 14:00 - 15:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

➡️ Future-proofing clinical data in Beacon: collaboratively reviewing next-gen phenotypic schemas
📍 Wednesday, April 15, 11:00 - 12:30 (EDT)
🔗 broadinstitute.swoogo.com/connect26/se...

🔎 Have you ever wondered which studies are most requested at EGA? In our latest blog post, we explore the top 🔟 studies behind the most requested datasets of 2025

Read the full text here 👉 blog.ega-archive.org/top-10-studi...

🚀 Key milestone!

Two weeks ago, the consortium met for a productive mid‑term meeting that marked the halfway point of the project, where partners aligned efforts across all work packages and exchanging ideas💡

Huge thanks to all partners for your dedication to building Europe’s future in genomics✨

A week left to prepare for the project proposal for the #BioHackEU26.
🧑‍💻 Join hundreds of willing #bioinformaticians
🧬 Huge range of expertise in #bioinformatics
🌥 Work on blue sky ideas or advance existing projects

🔗 Submission deadline 15 April: https://loom.ly/5gopDeQ

🚀 Want to lead the way in #RareDisease research?
Subscribe to #ERDERA’s newsletter! 📩
✅ Big news first
✅ Expert tips & tools
✅ Breakthroughs that matter
✅ Community highlights
Subscribe at 👉 https://loom.ly/NxMGydc

🔎 See the ‘FEGA Metadata Technical Report’, to which the @ifb-elixir-fr.bsky.social (INSERM) contributed as the lead organisation in the development of the FEGA France node

We will continue to work and collaborate with various groups to ensure that data is stored and reused for the benefit of the research community, accelerating scientific discovery and healthcare breakthroughs 🧬🚀

This document is the outcome of collaborative work among groups, including established #FederatedEGA Nodes and Nodes currently under development! We also bridged metadata modelling with projects and standards such as @elixir-europe.org, #GDI, @ga4gh.org, Beacon, and #Bioschemas

✅ Providing high-quality metadata relies on having a good metadata model and validation approach

💡 This second version of the EGA metadata model, still under active development, will enable EGA and Federated EGA to set a high standard for the (meta)data we archive

Good metadata is key to maximising the reuse of data distributed by EGA and Federated EGA 🚀

The #FederatedEGA Metadata Working Group is working on a new metadata model 📄 Read the latest report here: zenodo.org/records/1880...

CRG Beacon Documentation Web site created using create-react-app

For more information, visit:

🔗 The GitHub repo: github.com/EGA-archive/...
🔗 The documentation: beacon-documentation-demo.ega-archive.org/ui-introduct...

The Beacon Template UI supports both Beacon Networks and standalone Beacon deployments, regardless of the underlying implementation 🤝 Its straightforward configuration reduces barriers to adoption and enables a user-friendly interaction with Beacon services

💡 The Beacon Template UI provides Beacon owners with a ready-to-use, configurable frontend that can easily be connected to their Beacon API

🧬 It enables intuitive query building, filter selection and results exploration, thus making it easier for users to discover genomic and phenotypic data

📢 The Beacon Template UI version 1.0 is out!

The Beacon team at @crg.eu, in collaboration with @bsc-cns.bsky.social, has developed a customizable user interface for @ga4gh.org Beacon v2 implementations

📣 The ELIXIR coordinated #EOSC_ENTRUST project published its 2️⃣ policy brief – highlighting the #federation and governance approaches needed to create a trustworthy research infrastructure 🔬 on top of the #interoperable network of #TREs.

Read the summary news 👉 https://loom.ly/N1y07a0

EGA European Genome-Phenome Archive - EGA European Genome-Phenome Archive The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from biomedical research projec...

More papers are waiting for you! Visit our website anytime to delve into the latest published papers that showcase the wealth of data deposited at the EGA and the possibilities of #DataReuse:

➡️ ega-archive.org

Repotrectinib in NTRK fusion–positive advanced solid tumors: a phase 1/2 trial - Nature Medicine In the phase 1/2 TRIDENT-1 trial, treatment of patients with NTRK fusion–positive advanced solid tumors with the tyrosine kinase inhibitor repotrectinib—selective for ROS1, TRKA−C and ALK—was safe and...

📍 Repotrectinib in NTRK fusion-positive advanced solid tumors: a phase 1/2 trial
📰 Published in @natmed.nature.com
🤲 Deposited data: EGAS50000001572
🔗 www.nature.com/articles/s41...

Identifying drug targets for schizophrenia through gene prioritization - Translational Psychiatry Translational Psychiatry - Identifying drug targets for schizophrenia through gene prioritization

📍 Identifying drug targets for schizophrenia through gene prioritization
📰 Published in Translational Psychiatry
🤝 Reused data: EGAS00001001710
🔗 www.nature.com/articles/s41...

📍 Eukaryote initiation factor 6 modulates small-cell lung carcinoma plasticity via the integrin-FAK signaling axis
📰 Published in @natcomms.nature.com
🤲 Deposited data: EGAS00001004888
🔗 www.nature.com/articles/s41...

Laser interstitial thermal therapy and adjuvant pembrolizumab in recurrent high-grade astrocytoma: a Phase 1/randomized Phase 2b trial - Nature Communications Immune checkpoint inhibitors (ICIs) have shown limited efficacy in recurrent high-grade astrocytoma (rHGA). Here the authors report the results of a Phase 1/randomized Phase 2b trial of laser intersti...

📍 Laser interstitial thermal therapy and adjuvant pembrolizumab in recurrent high-grade astrocytoma: a Phase 1/randomized Phase 2b trial
📰 Published in @natcomms.nature.com
🤲 Deposited data: EGAS50000001144
🔗 www.nature.com/articles/s41...