danydoerr.bsky.social

20 July 2026 06:13

New Nature Reviews Genetics paper out! How are graph-based pangenomes removing reference bias and opening up new possibilities in GWAS and rare- and common disease genetics? 🔗 nature.com/articles/s41576-026-00987-7 #pangenome #geneticdiversity #referencebias

Adam Phillippy

aphillippy.bsky.social

21 April 2026 14:51

Friday was my last day at NHGRI. After 10 wonderful years, my lab is headed to Johns Hopkins University genomeinformatics.github.io/movingday/

Wolfram Höps

wolfram-hops.bsky.social

06 March 2026 18:20

🔄 Inversions predispose to recurrent deletions and duplications in chromsome 15q13.3. 🔁 Using de-novo assemblies of 10 patient-parent trios, we investigated how recurrent copy-number variants (CNVs) in the 15q13.3 locus arise. www.biorxiv.org/content/10.6... A brief tour (1/17)

Rob Patro

robp.bsky.social

05 March 2026 14:08

I may play around a bit more tonight, but this is a good checkpoint: github.com/COMBINE-lab/.... All features implemented, unit and integration tests, dedicated aarch64 & avx2 backends, a driver CLI! Still a bit slower than the C version, but we're closing the gap quick!

Adam Phillippy

aphillippy.bsky.social

14 February 2026 08:55

Time for a thread on our Christmas preprint “Origin and evolution of acrocentric chromosomes in human and great apes”. I had so much fun with this project and paper. It will be hard to summarize in a thread, but I’ll try www.biorxiv.org/content/10.6... [1/21]