carolinmsa.bsky.social
@carolinmsa.bsky.social
Reposted
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
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
Reposted
And a great comms piece as usual by @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
May 29, 2025 at 7:09 PM