acenglish.bsky.social
@acenglish.bsky.social
Bioinformatics
Pinned
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...
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...
www.nature.com
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...
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...
www.nature.com
April 4, 2025 at 9:42 PM
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
Dragonsweeper by Daniel Benmergui
A roguelike minesweeper adventure
danielben.itch.io
January 27, 2025 at 5:45 AM
Reposted
K-mer analysis of long-read alignment pileups for structural variant genotyping https://www.biorxiv.org/content/10.1101/2024.10.22.619642v1
K-mer analysis of long-read alignment pileups for structural variant genotyping https://www.biorxiv.org/content/10.1101/2024.10.22.619642v1
Accurately genotyping structural variant (SV) alleles is crucial to genomics research. We present a
www.biorxiv.org
October 25, 2024 at 8:47 PM
🚀 Truvari v5.0 is here! 🎉
What’s new?
🔹 Enhanced symbolic variant support for , ,
🔹 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 - ACEnglish/truvari: Structural variant toolkit for VCFs
Structural variant toolkit for VCFs. Contribute to ACEnglish/truvari development by creating an account on GitHub.
github.com
January 10, 2025 at 1:43 PM