Our method for SV genotyping with long-reads is now published! 🐷 ⚡️ Genotype single-sample or project-level VCFs with ease. Latest release: ✅ Up to 8x faster runtime ✅ Haplotagged read support for SV phasing 📝 Paper: www.nature.com/articles/s41... 🔧 Code: github.com/ACEnglish/ka...

This is a fun game! Took a few frustrating rounds to figure out a strategy, and a few more to find a good strategy, but worth it in the end. danielben.itch.io/dragonsweeper

K-mer analysis of long-read alignment pileups for structural variant genotyping https://www.biorxiv.org/content/10.1101/2024.10.22.619642v1

🚀 Truvari v5.0 is here! 🎉 What’s new? 🔹 Enhanced symbolic variant support for <DEL>, <DUP>, <INV> 🔹 Robust BND comparison for cross-representation SV matching 🔹 Improved SV sequence similarity & HUGE SV support 🔹 Cleaner UI & Revamped API 👉 More: github.com/ACEnglish/tr... #Genomics #Bioinformatics