Absolutely thrilled to share the latest work from my lab focused on the variation and evolution of human centromeres among global populations! We assembled 2,110 human centromeres, identifying 226 new major haplotypes and 1,870 α-satellite HOR variants. www.biorxiv.org/content/10.6...

Complete genomes alert! @glennislogsdon.bsky.social, @christinebeck.bsky.social, and I were on @scifri.bsky.social today talking about "Complex genetic variation in nearly complete human genomes" 📄 www.nature.com/articles/s41... 📻 www.sciencefriday.com/segments/65-...

🚨New preprint out! 🧬Short reads can now decode centromeres. 🌍We reveal population-scale centromere haplogroups and their links to disease. biorxiv.org/content/10.1... (1/n)

🧬 SSCV DB updated! We screened 525,323 RNA-seq samples (up from 310,699 at the time of our SSCV paper) and identified 48,569 splice-site creating variants (SSCVs). 👉 sscvdb.io #RNAseq #splicing #ASO

New from the lab by algorithm geek Hajime Suzuki! Genome assembly in centromeric regions is still challenging. By focusing on k-mer periodicity, Hajime implemented a novel hashing approach (github.com/ocxtal/mm2-ivh), which dramatically improves assembly in repetitive regions like centromeres!

Postdoc position opening in my group! Research projects: pangenomes for diverse organisms, genome evolution, biocomputing, language models. Please reach out if interested!

📢 HPRC Release 2 is here! Now with phased genomes from 200+ individuals, a 5x increase from Release 1. Explore sequencing data, assemblies, annotations & alignments in our interactive data explorer ⬇️: humanpangenome.org/hprc-data-re...

Itō Shiori's award-winning documentary BLACK BOX DIARIES still can't be screened in Japan. A group of lawyers - Itō's former attorneys - say she didn't get permission for some of the footage. But is that true? Why are attorneys undermining their own former client?