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

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

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