🧵 1/ 🚨 New preprint alert! Excited to share my first PhD paper, supervised by @annaesteveco.bsky.social at @cnag-eu.bsky.social: 📄 A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses 📄 Preprint: www.biorxiv.org/content/10.1... 🧬 Read on for the dataset & code!

🧵 1/ 🚨 New preprint alert! Excited to share my first PhD paper, supervised by @annaesteveco.bsky.social at @cnag-eu.bsky.social: 📄 A Comprehensive Annotation of Conserved Protein Domains in Human Endogenous Retroviruses 📄 Preprint: www.biorxiv.org/content/10.1... 🧬 Read on for the dataset & code!

🧬Great presentation by our Functional Genomics Team Leader, @annaesteveco.bsky.social, 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

🌍Today is #BiodiversityDay! 🧬At CNAG, we decode genomes to protect life on Earth and guide conservation efforts 🦉In the last two years, we have assembled nearly 50 reference genomes under the umbrella of @ebpgenome.bsky.social, @ergabiodiv.bsky.social, and @catbiogenoma.bsky.social #Biodiversity

New preprint out! This is probably my most important paper. To my deep chagrin, it has no math. XIST is a non-coding RNA exclusive to XX females. It silences one of the X chromosomes. So what is it doing in male heart Schwann cells?

🌟Great News: CNAG is now on BlueSky! 🚀From Barcelona to the world, we’re bringing you the latest in genomics! Stay tuned for breaking news, cutting-edge technologies, groundbreaking research, and upcoming events 🔗https://www.cnag.eu #Genomics #Innovation #Research #BlueSky #CNAG

Very excited to announce that the single cell/nuc. RNA/ATAC/multi-ome resource from ENCODE4 is now officially public. This includes raw data, processed data, annotations and pseudobulk products. Covers many human & mouse tissues. 1/ www.encodeproject.org/single-cell/...

Our ChromBPNet preprint out! www.biorxiv.org/content/10.1... Huge congrats to Anusri! This was quite a slog (for both of us) but we r very proud of this one! It is a long read but worth it IMHO. Methods r in the supp. materials. Bluetorial coming soon below 1/

So happy to see this work published! This is still the biggest single nuclei dataset of MS, and poses some fascinating questions. We found that the proportions of cell types across lesion types varied as expected, e.g. in active lesions we saw fewer oligos and more microglia.

People living with multiple sclerosis #MS could be prescribed personalised treatment in future, helped by research published in Neuron today in which Prof Anna Williams and colleagues studied more than half a million brain cells. @mssocietyuk regeneration-repair.ed.ac.uk/personalised... #CRM

Huge effort from @anaconesa.bsky.social at @scb.iec.cat comparing long-read RNA technologies @pacbio.bsky.social @nanoporetech.com and softwares #sqanti3, #bambu, #talon, #isoquant, for isoform discovery, still challenging to disentangle real biology from artefacts

Also filter on markers like MALAT1, cell intronic mapping reads cf. bmcgenomics.biomedcentral.com/articles/10....

Brilliant presentation by @jamesasharpe.bsky.social at XII Jornades de Bioinformàtica i Genòmica by @scb.iec.cat about mechanistic dynamical models and #Turing patterns to go from genes to phenotypes

Spreading our work at the XII Jornades de Bioinformàtica i Genòmica de la @scb.iec.cat @tmontsay.bsky.social about our recent discovery rdcu.be/d04Gz of pervasive presence of not completly lysed cells in reference cell atlases @humancellatlas.org compromising quality & model training

chatomics! Bioinformatics is NOT Just Statistics! 🚨 The p-value is small in this example, but is it biologically meaningful?

Not checking nuclear markers like MALAT1 or intronic reads in your scRNA-seq data?🚨 We show their power to flag low-quality cells—even in top public datasets. It’s time to prioritize better QC for cleaner, more reliable genomics research! Read more: bmcgenomics.biomedcentral.com/articles/10.... 1/8

The distribution of ~ 2 trillion immune cells in the human body.

ChatGPT and similar LLM systems will help you save time here when used judiciously 👇

I created a starter pack including people working in #bioinformatics core facilities 🧬 🖥️ I am sure I missed a lot of relevant people, so if you'd like to be added or know people who should be in there, let me know! go.bsky.app/LfGCpSX