Hillary Elrick
@hbelrick.bsky.social
46 followers 56 following 2 posts
🇨🇦 Bioinformatics Postdoc @ Francis Crick Institute & UCL | PhD @ EMBL-EBI (Cortes-Ciriano Group) 🧬 👩🏻‍💻 | https://github.com/helrick
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hbelrick.bsky.social
This was a huge combined effort with @carolinmsa.bsky.social & others in the lab, including @jevalleinclan.bsky.social, Sonia Zumalave + many more! It wouldn't have been possible without our incredible collaborators from Prof. Flanagan's team @ucl.ac.uk or @me-tanguy.bsky.social & Greg Elgar at GEL
Reposted by Hillary Elrick
natmethods.nature.com
Introducing SAVANA, a tool to detect somatic structural variants and copy number aberrations from long-read sequencing data with high sensitivity and specificity.

www.nature.com/articles/s41...
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
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 Hillary Elrick
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