CNAG

💜 Latest update from #Unicas_Hackathon:
3️⃣ diagnoses already achieved!

💪In the months ahead, we hope to find answers for the remaining families, with the collaboration of this team of over 100 experts and the genomic data sequenced and analysed by CNAG

#RareDiseases @sjdhospitalbarcelona.org

🚀BioSpain kicks off today in Barcelona!
🧬Visit us at one of Europe’s leading biotech events

👉We are OmicsTech, the ICTS Infrastructure of Omics Technologies, formed by CNAG, @crg.eu & COS @eurecat.bsky.social

Ready to take your research to the next level?
See you there!
#BIOSPAIN2025 #ICTSNews

🙌¡Maratón por las enfermedades raras!
💜Ayer empezaba el primer Únicas Hackathon, un encuentro de clínicos, investigadores y genetistas para hallar el diagnóstico de 12 casos pediátricos en 48 horas

🧬Como colaboradores, nuestro equipo fue hasta Murcia para ayudar a la causa @sjdhospitalbarcelona.org

🇸🇪 Tomorrow we’ll be at the @ga4gh.org 13th Plenary in Sweden!

🗣️ Our Head of Bioinformatics, Sergi Beltran, will join the panel “GA4GH supporting genomics in clinical practice at the national level” (12–13h)

📺 Watch it live online: www.youtube.com/GA4GH

#ga4gh13thplenary #CNAG @inserm.fr #Genomics

✨Yesterday we held the Advanced Course on Long-Read Sequencing & Medical Genomics!

👥 Over 200 joined online, and nearly 100 attended in person at KU Leuven
🗣️ Pedro M. Rodríguez Cruz, our Clinical Genomics Specialist, shared insights into African neuromuscular disorders

@easigen-eu.bsky.social

🔝New advances in cancer: an epigenetic algorithm unlocks its past and future

Published in @nature.com by @idibaps.bsky.social & @icr.ac.uk with CNAG's contribution, the study found that DNA methylation can be a molecular signature, tracing tumour origins and evolution

🔗 www.cnag.eu/news/epigene...

📢New event: 2nd International Conference on Clinical Research Networks for Rare Diseases!

Organised by @erdera.bsky.social, an EU-funded project with CNAG as a partner

📅9–10 December 2025
📍Heidelberg & Online
🔗Programme and registry: loom.ly/1fhf8zI

#RareDiseases #CRN2025 #ClinicalResearch #CNAG

🚨 Tomorrow is the day!

Get ready for an exciting day as we kick off the 𝐀𝐝𝐯𝐚𝐧𝐜𝐞𝐝 𝐜𝐨𝐮𝐫𝐬𝐞 𝐨𝐧 𝐥𝐨𝐧𝐠-𝐫𝐞𝐚𝐝 𝐬𝐞𝐪𝐮𝐞𝐧𝐜𝐢𝐧𝐠 𝐚𝐧𝐝 𝐦𝐞𝐝𝐢𝐜𝐚𝐥 𝐠𝐞𝐧𝐨𝐦𝐢𝐜𝐬🧬

📍 On-site attendance: 8:30 - 18:00 (CET)

💻 Online attendance: 8:50 – 18:00 (CET)

Thank you to all participants, we look forward to welcoming you! ✨

🙌New targeted therapy for cholangiocarcinoma!
The study shows that dual inhibition of NOX1 & NOX4 can slow progression in this high-risk cancer

🧬 CNAG performed RNA-seq (@annaesteveco.bsky.social) in this work, led by @ciccancer.bsky.social & @idibell.bsky.social

🔗 www.nature.com/articles/s41...

🚀New advances in Chronic Fatigue Syndrome & Long Covid-19!

Led by @ibecbarcelona.eu, with our contribution (@annaesteveco.bsky.social), the study shows that skeletal muscle progresses through a hypermetabolic state, leading to muscle & mitochondrial deterioration

iopscience.iop.org/article/10.1...

💜 Pushing the boundaries for rare diseases!
Our team joined the session “Bridging the Gap in Diagnosing Undiagnosed Rare Disease Patients” at the Caring for Rare conference in Belgrade, with experts from across Europe

Part of the BRIDGING-RD project, accelerating #RareDiseases research in Serbia

📢Upcoming event!
Our Director, Ivo Gut, will take part in the NGS Innovation Summit in Heidelberg, led by @nebiolabs.bsky.social

🗣️Don’t miss his talk: “Epigenetic analyses then and now”
🗓️October 1, 11:45 am

👉 www.neb-online.de/ngs-innovati...
#NGSInnovationSummit #epigenetics #NGStechnologies

The annotation pipeline begins with the output file from RepeatMasker. While the main output is a TSV file containing domain coordinates and completeness scores, several intermediate and supporting files are also generated, including FASTA, TSV, BED, and TBL files, as well as InterProScan and Phobius output files providing additional information for each detected domain.

🚀Preprint out!
“A Comprehensive Annotation of Conserved Protein Domains in HERVs” by our Functional Genomics Team, @tmontsay.bsky.social, @annaesteveco.bsky.social

A key resource annotating conserved retroviral domains across 120,000+ ORFs from internal HERV regions

www.biorxiv.org/content/10.1...

🎗️Today is World Cancer Research Day!
Do you want to know how we study cancer at CNAG?

🧬Follow our researcher @pascual-reguant.bsky.social to discover how we analyse genes to fight many types of cancer

📽️ Watch the video:
#WorldCancerResearchDay #DiaMundialInvestigacionCancer #Cancer #CNAG #Recerca

🚀Ready to dive into the future of genomics?
Join the @easigen-eu.bsky.social Advanced Course on Long-Read Sequencing & Medical Genomics!

This training is part of the EU-funded project, coordinated by CNAG

📅2 October
📍@kuleuvenuniversity.bsky.social & online

📝 docs.google.com/forms/d/e/1F...

🚨 We’re hiring!
Would you like to join a European leading center for genome analysis?

👀 Check out our job offers:
▪️ Bioinformatician (Functional Genomics Team)
▪️ Sample Preparation Specialist Technician
▪️ Administration Officer

👉 www.cnag.eu/jobs
#BCN #Empleo #Job #CNAG #Hiring #OfertaLaboral

🌟This week, some of our Principal Investigators at CNAG taught at the X Curso Nacional de Genética, organised by the @segenetica.bsky.social and @csic.es

▪️@tmarquesbonet.bsky.social: Primates as a model for evolution, conservation & biomedicine
▪️@mamartirenom.bsky.social: Structural Genomics

A transcriptional map of human tonsil architecture: beyond the sum of (single cell) parts The tonsil is a highly compartmentalized organ in which different microanatomical structures orchestrate designated (immune) functions. We use this already well-studied tissue to survey spatial molecu...

🚀New preprint from our Spatial Genomics Team!
“A transcriptional map of human tonsil architecture”

🔬~2M cells → 52 subpopulations, unlocking insights from a key immune organ with Spatial Transcriptomics and analyses

www.biorxiv.org/content/10.1... @helucro.bsky.social @pascual-reguant.bsky.social

✈️ These days we’ve travelled to Brussels to attend the European Research & Innovation Days, and present the @easigen-eu.bsky.social project, coordinated by CNAG

🧬 We’re Designing a Study for a Research Infrastructure on Advanced Genomics Technologies
🔗 More information: easigen.eu

#RiDaysEU #CNAG

🚀Apply now for the 2026 Open Academy Trainings!
📚Led by @eurordis.bsky.social, with CNAG as 1 of the participating centres, this intensive program in Barcelona (25-28 May 2026) is open to patient advocates & researchers in rare diseases

👉 openacademy.eurordis.org/open-academy... @erdera.bsky.social

STAMP workflow. Single cells in suspension are fixed and 'stamped' onto glass imaging slides in customisable layouts with RNA and/or proteins by cycling fluorescents readouts using existing spatial omics imaging instruments. STAMP, Single-Cell Transcriptomics and Multimodal profiling.

🚀 STAMP in practice, in @naturerevgenet.bsky.social!

Led by CNAG, @stjude.bsky.social & @acepigenetics.bsky.social, the method “stamps” millions of cells on slides for RNA & protein profiling, preserves morphology, enables multimodal analysis, & costs up to 100x less than scRNA-seq!

rdcu.be/eBGZO

🙌Thrilled to share that our Director, Dr. Ivo Gut, was invited as a keynote speaker at the Annual Meeting of the Dutch Society of Human Genetics (NVHG)!

🗣️His talk, “Why would you go on a journey without a map?”, explored the crucial role of variant interpretation

#NVHG2025 @nvhg.bsky.social #CNAG

📢 ¡Hoy estamos en la III Jornada IMPaCT-Genómica!
🧬 Un encuentro sobre los últimos avances en medicina de precisión, fruto de la red nacional de secuenciación liderada por CNAG y coordinada por Ángel Carracedo

@saludisciii.bsky.social @ciberisciii.bsky.social @cienciagob.bsky.social @sanidad.gob.es

🆕New preprint out!
Did you know that in biomedical research there is no unified way to name subjects and biospecimens?

⭐️Until now! With ClarID, Manuel Rueda and Ivo Gut propose a human- & machine-readable system that embeds metadata, facilitating analysis

🔗 www.medrxiv.org/content/10.1...

🌍 Driving research on rare diseases!
📚 This week, our Data Analyst Steve Laurie is teaching at the Bringing-RD Summer School, supporting the Institute of Molecular Genetics and Genetic Engineering (Serbia) with the latest bioinformatics knowledge

🔗 www.cnag.eu/projects/bri...
#CNAG #RareDiseases

🙌CNAG played a key role by organising, hosting, & executing this innovative initiative, further strengthening our position as a hub for integrated diagnostics & expert training

With the participation of @annaesteveco.bsky.social, Steve Laurie, @lmatalonga.bsky.social, Sergi Beltran, and many more!

🔝During these three-day workshops, between 50 and 70 international researchers (clinical experts, bioinformaticians, and geneticists) collaborate on data analysis, training, and live discussions of results

🎯Their main objective: to solve unsolved rare disease cases

📢 New paper out in @natgenet.nature.com!
✨ CNAG coordinates the Solvathons, a groundbreaking pan-European initiative for rare disease diagnosis

Solve-RD launched these interdisciplinary workshops, which have led to over 100 new diagnoses for rare disease families

🔗 www.cnag.eu/news/cnag-co...

Don’t miss the @easigen-eu.bsky.social Advanced Course on Long-Read Sequencing & Medical Genomics!

Discover cutting-edge long-read sequencing technologies and how they’re reshaping medical research and healthcare
📅2 October
📍@kuleuvenuniversity.bsky.social & online

docs.google.com/forms/d/e/1F...

HEREDITARY (@hereditaryeu.bsky.social) #DeCodingHEREDITARY 🧠📊 Check out Deliverable 3.1: Ontology and federated execution methods. 🔬 This deliverable presents the HERO ontology and a federated execution framework for integrating…

At CNAG, we are proud to be partners in @hereditaryeu.bsky.social, advancing disease detection and treatment through the integration of clinical and genomic data

🆕 We have launched the HERO ontology & federated framework for ALS and MS, with contributions from Manuel Rueda