And a great comms piece as usual by @ebi.embl.org

EMBL-EBI@ebi.embl.org · last yr.

Long-read sequencing can reveal hidden cancer mutations, but existing tools often produce false positives. SAVANA is a machine learning algorithm trained on cancer genomes, built to make analysis faster and clinically reliable. @isidrolauscher.bsky.social www.ebi.ac.uk/about/news/r... #oncosky

SAVANA is out in the wild 🦁! #SAVANA detects haplotype-resolved somatic structural variants (SVs), copy number aberrations, and calculates tumour purity and ploidy using long-read data. Together with it, a robust, data-driven benchmarking effort! Below is a thread with all the advantages 👇

@isidrolauscher.bsky.social · last yr.

Thrilled to see #SAVANA out in @natmethods.nature.com 🥳 SAVANA detects haplotype-resolved somatic SVs, copy number aberrations & infers tumour purity & ploidy using long-read sequencing with or WITHOUT a matched germline control 👇https://www.nature.com/articles/s41592-025-02708-0

Nature research paper: MYC ecDNA promotes intratumour heterogeneity and plasticity in PDAC https://go.nature.com/41IPJwX

MYC ecDNA promotes intratumour heterogeneity and plasticity in PDAC - Nature

In a model of pancreatic ductal adenocarcinoma, extrachromosomal DNAs are shown to be a source of high-level focal amplification driving MYC heterogeneity and phenotypic adaptation.

go.nature.com

🧬 Novo estudo da #UniversidadeDeVerona, @uofglasgow.bsky.social & @champalimaudf.bsky.social revela como o #DNAExtracromossómico (#ecDNA) ajuda os tumores pancreáticos a resistirem aos tratamentos e a sobreviverem. 🔍 O resumo 👉🔗 shorturl.at/iJF8J 📄 O artigo 👉🔗 bit.ly/4ipKRUA

🧬 #ResearchWatch: Loss–Translocation–Amplification #Chromothripsis Drives #Osteosarcoma Evolution, a summary of the study by @jevalleinclan.bsky.social, Solange De Noon, Adrienne Flanagan, Isidro Cortes-Ciriano, and colleagues @ucl.ac.uk @ebi.embl.org @uclnews.bsky.social doi.org/10.1158/2159...

Loss–Translocation–Amplification Chromothripsis Drives Osteosarcoma Evolution

Main Finding: High-grade osteosarcomas frequently exhibit a loss–translocation–amplification (LTA) pattern of chromothripsis that inactivates TP53 and amplifies oncogenes.Concept: Ongoing chromothrips...

doi.org

Un equipo de científicos revela el mecanismo del osteosarcoma, un agresivo cáncer que afecta a niños y adolescentes y que se extiende desde los huesos: “Hay cromosomas que son como Frankenstein”

Descubierto un terremoto en el ADN que provoca un cáncer agresivo en niños y adolescentes

Un equipo de científicos revela el mecanismo del osteosarcoma, un tumor que se extiende desde los huesos: “Hay cromosomas que son como Frankenstein”

elpais.com

Osteosarcoma, an aggressive bone cancer, most commonly affects children and young adults. New research solves the mystery of what drives the genomic rearrangements causing the aggressive development and evolution of osteosarcoma tumours. www.ebi.ac.uk/about/news/r... 🧪

Researchers uncover what drives aggressive bone cancer

Study identifies a novel mechanism driving osteosarcoma and provides insights to help predict patient outcomes.

ebi.ac.uk

Expand your Bluesky network with R: Find people followed by the people you follow, but who you don't follow, using R and the atrrr package blog.stephenturner.us/p/expand-you... #Rstats

Expand your Bluesky network with R

Find people followed by the people you follow, but who you don't follow, using R and the atrrr package

blog.stephenturner.us

Not enough bioinformatics in your Bluesky feed? We’ve got you covered. Follow us for our latest news, exciting life science research, updates from our data resources, new tools and training resources. Haven't heard of EMBL-EBI? Take a look at what we’re working on. www.ebi.ac.uk/about/our-im...

Our impact

We provide open data that helps scientists understand life and that informs solutions to real-world problems, such as infectious diseases, climate change and food security.

ebi.ac.uk

Portugal is rapidly losing its young people. Will this new scheme convince them to stay? | Adam Almeida

Portugal is rapidly losing its young people. Will this new scheme convince them to stay? | Adam Almeida

Studying in Lisbon, I found most of my peers were planning to emigrate. Now the government is turning to taxes to stop the brain drain In the autumn of 2018, I moved to Lisbon for a month-long course at the Universidade de Lisboa. I struggled to find any…

dlvr.it

Something that's been bugging me for a while in bioinformatics data analysis is this overreliance on packages, workflows and what's been called "cargo cult science". Can we have more conceptual thinking, more theory? Asking for what we really want to achieve and what we need to do gets us there.

I want to open my Blusky by reminding that we are looking for a motivated PhD student to join our team at VHIO for a very exciting computational immuno-oncology project. Check out the position and apply! 💻🧬 #PhD #CompImmunoGenomics vhio.net/vhio-phd-opp...

PhD Fellowships - VHIO

Join us @ VHIO for a PhD! Eligibility criteria  | How to apply |  Selection process  |  Fellowships Available  |...

vhio.net