🏆El Tomàs Montserrat, bioinformàtic a l'Equip de Genòmica Funcional del #CNAG, rep el Premi a la millor presentació oral 2024, a la XII Jornada de Bioinformàtica i Genòmica de la Societat Catalana de Biologia ➡️Ha presentat l'estudi publicat a BMC: bmcgenomics.biomedcentral.com/articles/10.11… 🔝Enhorabona!

🔬Ayer culminaba el proyecto sobre cáncer colorrectal en adolescentes y adultos jóvenes, financiado por Contra el Cáncer Investigación y coordinado por Sergi Castellví Bel 🇪🇺🏳️‍🌈 (IDIBAPS) Nuestra investigadora AnnaEsteveCodina acudió desde CNAG, que ha aplicado RNA-seq para identificar su mutación causal

🎉Ready for the poster sessions at #eshg2025! AnnaEsteveCodina, our Functional Genomics Team Leader at CNAG, will present: “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” 🗓️Sunday, 25 May 2025 at 13:00-14:00 🗓️Monday, 26 May. At 13:00 - 14:00 📌Exhibition Hall

🙌 What a great day! 🧑‍🔬👨‍🔬 Today we had the pleasure of meeting our partners Vicente Yépez (OmicsDiscoveries) and Ana Topf (Newcastle University) at #eshg2025 — proud to keep advancing rare disease research together! It’s always a pleasure to exchange ideas! #GenomicsIsInOurDNA #CNAG #RNA

💪 What a dream team we’ve got at CNAG for #eshg2025 — our super project managers, the Human Genetics and the Functional Genomics Team! 😎And just look how good we look in our new t-shirts… CNAG is giving it all, once again! 📍Find us at booth 382 #GenomicsIsInOurDNA #eshg

👥This is us! The CNAG team at #eshg2025: our Project Managers Elena Vila and Francesc Bou, Clinical Genomics Manager Leslie Matalonga, Functional Genomics Leader AnnaEsteveCodina, Data Analysts Steve Laurie and Gemma Bullich, and our Director Ivo Gut 🗓️Book a meeting with us!

🔝Day 3 at #ESHG2025 — see what we’re up to! ➡️10:30 – Increased diagnosis rate in rare diseases through iterative re-analysis and multi-omics integration ➡️11:00 – Integrative multi-omics for undiagnosed rare diseases ➡️13:00 – Does genome analysis quality matter? #CNAG #eshg

🧬Great presentation by our Functional Genomics Team Leader, AnnaEsteveCodina, at #eshg2025! 🗣️She showcased our work on “Integrative multi-omics for undiagnosed Rare Diseases (Omics-RD)” 👏 Congratulations, Anna, and well done to the team behind this project! #RareDiseases #CNAG

🔥Non-stop on the last day of #eshg2025! 🗣️This morning we joined the oral presentation of our partner Vicente Yépez (TU München): 'Rare Disease Solvathons – the power of multi-omics data integration'. Truly inspiring work! #RareDiseases #CNAG #GenomicsIsInOurDNA #Research

Best Poster in Clinical Research Rebeka Luknárová, Munich, Germany P16.006.A - "Harmonized framework for RNA-seq-based rare disease diagnostics in a pan-continental consortium - Solve-RD"

🙌 Really excited about this recognition! Congratulations to our partners from TU München — Rebeka Luknárová, Vicente Yépez, and Julien Gagneur — together with our Functional Genomics Team Leader at CNAG, AnnaEsteveCodina, and Solve-RD #research #eshg2025 #bestposter

4/ Low MALAT1 levels (e.g., <1% of median) are reliable indicators of damaged cells or low-quality nuclei in snRNA-seq. read 10x Q&A kb.10xgenomics.com/hc/en-us/artic…

7/ In Tabula Muris and Tabula Sapiens, MALAT1 expression was tightly correlated with nuclear RNA content and intronic fractions. bmcgenomics.biomedcentral.com/articles/10.11…

📢We’re hiring! Join our team at CNAG and help advance genomics research! Check out our new positions: ➡️Bioinformatician (Functional Genomics Team) ➡️PhD Student - Computational Biologist (Single Cell Team) 🔗cnag.eu/jobs #Jobs #Hiring #Genomics #ResearchJobs

📢New paper in Neuromuscular disorders (World Muscle Society)! 🧬A study helped identify a new genetic variant in the TNNT3 gene causing a rare muscle disorder in two siblings, thanks to a multi-omics approach (genomics and transcriptomics) 📎nmd-journal.com/article/S0960-… #RareDiseases

🌍 Today is World RNA Day! Discover with our Functional Genomics Team Leader, AnnaEsteveCodina, why RNA is a vital biological key: essential for advancing research in cancer, rare diseases 🌟At CNAG, we study RNA to improve people's health and quality of life #RNADay #RNA #CNAG

🚨New job offer! ➡️Join the Functional Genomics Team at CNAG as a Bioinformatician to work on the SEED-ALS Spain project, a national initiative focused on understanding and treating Amyotrophic Lateral Sclerosis (ALS) 🗓️ Apply by 30 September 🔗 cnag.eu/jobs #CNAG

🙌New advances on rare diseases! Within the Solve-RD, PacBio HiFi long-read whole-genome sequencing has proven instrumental in uncovering previously undetectable genetic variants, leading to new diagnoses genome.cshlp.org/content/35/4/7… #RareDiseases #CNAG Genome Research ERDERA

📢New paper out in Nature Genetics! ✨CNAG coordinates the Solvathons, a groundbreaking pan-European initiative for rare disease diagnosis Solve-RD launched these interdisciplinary workshops, which have led to 100 new diagnoses for rare disease families 📎cnag.eu/news/cnag-coor…