Sofia
sofiabanu.bsky.social
Sofia
@sofiabanu.bsky.social
PhD Student & SPA @CCMB, India | SVs in PopGen and Clinical genomics 🧬 | Data hippie 👩🏻‍💻 and full-time coffee snob! ☕️Long read enthusiast! She/Her
Reposted by Sofia
Interested in SV calling from LRS data but overwhelmed by the 25,000 variants you're sorting through? Check out needLR! Gus just updated it today to include SV calls from 450 1000 Genomes samples (900 haplotypes), vcf output, and much more. github.com/jgust1/needLR
GitHub - jgust1/needLR: A structural variant filtering and prioritization tool for long-read sequencing data
A structural variant filtering and prioritization tool for long-read sequencing data - jgust1/needLR
github.com
April 11, 2025 at 2:14 AM
Reposted by Sofia
Awesome to see the assembly polishing models we've been working on the last couple of months finally out there - we've had some really promising results with these internally so keen to see how others get on with them!
🎄 New Dorado release (v0.9.0) – and it's big!

🚀 Dorado polish command (experimental) for improving draft assemblies – faster & more accurate than Medaka
⚡ Faster modified base calling models
🔧 Usability & accuracy improvements: PolyA, Barcoding, 6mA calling

github.com/nanoporetech...
Release v0.9.0 · nanoporetech/dorado
[0.9.0] (16 Dec 2024) This major release of Dorado introduces several new features and enhancements. The polish command, currently experimental, is optimised for refining draft assemblies of human ...
github.com
December 17, 2024 at 3:33 PM