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?