isidrolauscher.bsky.social
@isidrolauscher.bsky.social
Reposted
📢 The 2nd European Cancer Dependency Map Symposium is coming!
🗓️ 20 Nov 2025
📍 Human Technopole, Milan
Join us for a one-day dive into:
🔹 Cancer genomics
🔹 CRISPR screening
🔹 AI-driven target discovery
With the patronage of AIRC
🔗 humantechnopole.it/en/trainings...
2nd European Cancer Dependency Map Symposium - Human Technopole
The 2nd European Cancer Dependency Map Symposium is a scientific event open to the national and international scientific community working in computational genomics, pharmacogenomics, and therapeutic ...
humantechnopole.it
September 17, 2025 at 10:05 AM
Very glad to see this preprint by @lh3lh3.bsky.social and Meyerson labs www.biorxiv.org/content/10.1... confirming our finding of artifactual fold-back inv in long reads (Fig S1 in our @natmethods.nature.com‬ paper presenting SAVANA, which filters such artifacts to improve SV calling 👇
July 20, 2025 at 11:35 PM
Reposted
Work by researchers in the group of @isidrolauscher.bsky.social at EMBL-EBI, the R&D lab of @genomicsengland.bsky.social, in collaboration with clinical partners at @ucl.ac.uk, Royal National Orthopaedic Hospital, Instituto de Medicina Molecular João Lobo Antunes, and Boston Children’s Hospital.
May 29, 2025 at 8:57 AM
Very well done indeed @hbelrick.bsky.social ! 😀
Really happy to see this out! See the great explainer thread below from @isidrolauscher.bsky.social on my main PhD project, SAVANA
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
May 30, 2025 at 12:41 PM
Reposted
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 👇
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
May 29, 2025 at 7:08 PM
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
May 28, 2025 at 5:36 PM
Reposted
In this #ToolsoftheTrade article, @timcoorens.bsky.social describes the development of #SComatic, an algorithm enabling the detection of somatic mutations in single cell sequencing data, & its use to study lineage relations + mutational signatures.

Read about it here 👇
https://bit.ly/4kyM7...
Detecting somatic mutations in single-cell data with SComatic - Nature Reviews Cancer
In this Tool of the Trade article, Tim Coorens describes the development of SComatic, an algorithm enabling the detection of somatic mutations in single-cell RNA- or ATAC-sequencing data, and its use to study lineage relations and mutational signatures.
bit.ly
March 4, 2025 at 3:45 PM
We have two #postdoc positions open to join my team at @ebi.embl.org in beautiful Cambridge!
We are a mission-driven, highly collaborative and dynamic team located at the Wellcome Genome Campus, one of the most exciting hubs in the world focused on biomedical research 👇
Postdoctoral Fellow
Your group The Cortes-Ciriano group studies the mutational processes and mechanisms of genome instability underpinning tumourigenesis, immune escape, and drug response through the analysis of high-thr...
embl.wd103.myworkdayjobs.com
April 4, 2025 at 11:37 AM
Reposted
Very excited to share the stellar speaker line-up at our ecDNA conference this June in London! 👇
If you're interested in #ecDNA and want to hear or present groundbreaking research, register now. Abstract submission deadline is 14 March.

Learn more: www.cancergrandchallenges.org/ecDNA-2025
February 24, 2025 at 10:29 AM
Reposted
🧬 #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
February 6, 2025 at 5:00 PM