🌹 When science blooms for #SantJordi.
Our April Image of the Month, “The Rose of Sant Jordi: Desmosomal Bonds of Life” by Berta Pi Benavent (#IRBBarcelona), reveals a microscopic rose formed by desmosomal junctions anchoring epithelial cells.
Happy Sant Jordi! 🐉 📖
Posts by David Martínez Millán
We are excited to announce the release of the new Cancer Genome Interpreter Platform developed within the EU-funded project @cgiclinics.bsky.social. It is adapted to the clinical context and reflect the latest advancements in precision oncology.
bbglab.irbbarcelona.org/2026/04/new-...
✨𝗘𝘀𝗽𝗲𝗰𝘁𝗮𝗰𝘂𝗹𝗮𝗿 la nueva imagen de la capilla de Torre Girona!
🔨Tras meses de obras para retirar el falso techo, muy pronto reabriremos el acceso a las visitas.
⌛En breve os mostraremos➕.
💫 #WorkinProgress #StayTuned #ComingSoon #Próximamente
Very happy to share that our paper on the influence of biological sex and smoking in the clonal landscape of the normal human bladder is out today in Nature. Kudos to all the authors and especially to @ferriol.bsky.social for coming along with me during this project's journey!
🧵Summary following ⬇️
🧪 Out in @nature.com: Smoking and biological sex shape healthy bladder tissue evolution, offering clues to #cancer risk.
✍️ #IRBBarcelona & University of Washington
➡️ bit.ly/42wcIN5
📌 DOI: 10.1038/s41586-025-09521-x
#IRBScience #CancerResearch #BladderCancer @bbglab.bsky.social
🧵👇
As we are quite new in that network, we take the chance to share our research achievements of the last year.
Here you can follow a short 🧵of our latest publications:
1️⃣
www.nature.com/articles/s41...
En memoria de Joan Guinovart, por Francesc Posas, Raúl Mendez y Margarida Corominas en nombre del @irbbarcelona.org del Que fue fundador.
DEP
elpais.com/espana/catal...
Thanks, Brendan! More than welcome to try it out!
OpenVariant: a toolkit to parse and operate multiple input file formats academic.oup.com/bioinformatics/advance-a... 🧬🖥️🧪 https://github.com/bbglab/openvariant
OpenVariant: a toolkit to parse and operate multiple input file formats. #Genomics #VariantFormats #InputFileFormats #Bioinformatics 🧬 🖥️
Github; github.com/bbglab/openv...
academic.oup.com/bioinformati...
Thank you so much!!! ☺️
I would like to thank everyone involved in the development of the tool, Federica Brando, Miguel L. Grau, @guixe-m.bsky.social , Carlos López-Elorduy, Iker Reyes-Salazar, Jordi Deu-Pons, @nlbigas.bsky.social and Abel González-Pérez.
Overall, OpenVariant addresses a significant problem in the field by aggregating cohort-level data from multiple sources into a single harmonized result set. It replaces many of the tedious steps involved in curating data with a more robust and easier-to-document process.
OpenVariant is open-source software under BSD-3 Clause license, freely available for public use. It is designed in an easily extendable way to encourage collaboration in its development, available on GitHub: github.com/bbglab/openv...
IntOGen pipeline on Nextflow.
We integrated OpenVariant as the first step in the IntOGen pipeline (www.intogen.org), processing 257,898,749 somatic mutations across 33,218 tumor samples represented through 271 cohorts sequenced by different sources, and stored in different data formats.
No existing tool matches OpenVariant's functionalities, setting it apart from other tools in the field. Its execution time was evaluated against similar Python-based tools using @brent-p.bsky.social benchmark (github.com/brentp/vcf-b...), ranking OpenVariant among the best peers.
Annotation structure of OpenVariant
OpenVariant is designed based on an annotation structure that serves as a core component in which describes how input files are parsed and how the output is represented. As well, a plugin system is incorporated to hone data transformation from the user.
We present OpenVariant, a Python package to encompass a wide range of functionalities to operate multiple variant file formats at once and manage the annotation of metadata relative to mutational datasets. You can consult the documentation at: openvariant.readthedocs.io
Despite efforts to homogenize data produced by variant callers and available processing tools, differences in the variants persist across projects. This variability hiders the integration of somatic mutations from different sources, key for large cancer genomics analyses.
🎉 I'm thrilled to announce that OpenVariant is finally published! A comprehensive toolkit to facilitate reading, parsing and refinement of diverse input file formats in a customizable structure, all within a single process. @bbglab.bsky.social at @irbbarcelona.bsky.social
doi.org/10.1093/bioi...