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...

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...

My final score was 206

Dragonsweeper by Daniel Benmergui A roguelike minesweeper adventure

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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

K-mer analysis of long-read alignment pileups for structural variant genotyping www.biorxiv.org/content/10.1101/2024.10....

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

🚀 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