David Porubsky

Check out SVbyEye: A new visualization tool to characterize structural variation among whole-genome assemblies (biorxiv.org/content/10.110…)

Detailed evaluation of remaining gaps in phased genome assemblies from human pangenome consortium (HPRC). We show that large repeat flanked inversions are among those the are the most difficult to assemble correctly. For more see: genome.cshlp.org/content/early/…

Here we prove that the complete human genome assembly (T2T-CHM13) is a better reference for inversion discovery than GRCh38. For instance, T2T reference is three times more likely to represent the correct orientation of the major human allele. See: genomebiology.biomedcentral.com/articles/10.11…

"Telomere-to-telomere assembly of diploid chromosomes with Verkko" now published 🎉 Great work @MikkoRautiaine3 @sergeynurk Brian Walenz @glennis_logsdon @PorubskyDavid @ArangRhie @EichlerLab @sergekoren! nature.com/articles/s4158…

The other on how much new we can learn about uoısɹǝʌuı polymorphism with a gapless human genome biorxiv.org/content/10.110…

We are excited to annouce bioRxiv release of two new manuscripts! One on critical evaluation of phased genome assemblies biorxiv.org/content/10.110… which offers insight into where state-of-the-art haplotype-resolved assemblies still struggle

To help unpack the diversity within SD sequence, we are excited about the future of technologies like: nature.com/articles/s4159…, github.com/marbl/verkko, and nature.com/articles/s4158… which bring the possibility of fully assembling human genomes within reach! #T2T #assembly

Finally, putting all of these elements together, we hope to tackle questions regarding human evolution and non-human primate assembly and lineage! nature.com/articles/s4158… and nature.com/articles/s4158… @yafmao92 @PorubskyDavid #nhp

In case you missed the interviews with Mitchell Vollger (@mrvollger), Glennis Logsdon (@glennis_logsdon) & Evan (@EichlerEE) on the #T2T papers, check it out! newsroom.uw.edu/news/some-hard… youtu.be/mPcovmMjFgc

Hello Twitter World! The Eichler Lab has decided to join the 21st century and get a Twitter account! We wanted to start this account out by tweeting about things we are excited about moving forward! #genomics #biology @HHMINEWS @uwgenome @EichlerEE