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acenglish.bsky.social @acenglish.bsky.social · 04/04/2025

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...

nature.com

K-mer analysis of long-read alignment pileups for structural variant genotyping - Nature Communications

Accurately genotyping structural variant (SV) alleles is crucial to genomics research. Here the authors present a rapid and accurate method that avoids common errors seen with other genotypers, partic...

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acenglish.bsky.social @acenglish.bsky.social · 27/01/2025

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

danielben.itch.io

Dragonsweeper by Daniel Benmergui

A roguelike minesweeper adventure

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acenglish.bsky.social @acenglish.bsky.social · 10/01/2025

🚀 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

github.com

GitHub - ACEnglish/truvari: Structural variant toolkit for VCFs

Structural variant toolkit for VCFs. Contribute to ACEnglish/truvari development by creating an account on GitHub.

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