Jose Espejo Valle-Inclan
@jevalleinclan.bsky.social
340 followers 1.3K following 2 posts
Cancer genomics @ Botton-Champalimaud Pancreatic Cancer Centre || Now 🇵🇹, past 🇬🇧 🇳🇱 🇪🇸
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jevalleinclan.bsky.social
And a great comms piece as usual by @ebi.embl.org
ebi.embl.org
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
Machine learning algorithm brings long-read sequencing to the clinic
SAVANA is a new tool designed for accurate detection of structural variations in clinical samples.
www.ebi.ac.uk
jevalleinclan.bsky.social
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
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
Reposted by Jose Espejo Valle-Inclan
champalimaudf.bsky.social
🧬 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
Reposted by Jose Espejo Valle-Inclan
elpais.com
EL PAÍS @elpais.com · Jan 14
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
Reposted by Jose Espejo Valle-Inclan
ebi.embl.org
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.
www.ebi.ac.uk
Reposted by Jose Espejo Valle-Inclan
Reposted by Jose Espejo Valle-Inclan
ebi.embl.org
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.
www.ebi.ac.uk
Reposted by Jose Espejo Valle-Inclan
wkhuber.bsky.social
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.
Reposted by Jose Espejo Valle-Inclan
franmj88.bsky.social
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