EichlerLab

Check out UW Medicine's feature on the Eichler Lab @EichlerEE @uwgenome @NewsHhmi

Noyes et al. apply long-read sequencing to autism families identifying increased numbers of germline & postzygotic mutations. Repetitive sequences like segmental duplications are hypermutable, especially in early embryo. @EichlerEE @uwgenome @hhmi_science nature.com/articles/s4146…

Real et al. find human-specific NOTCH2NL duplications are linked to cortical expansion. Analysis of 82 long-read ape & human genomes shows independent duplications, major structural variation, and gene conversion, with rapid gene and regulatory divergence. cell.com/cell-genomics/…

@PorubskyDavid et al. resolve 65 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched for inverted repeats predisposing to inversion. doi.org/10.1038/s41467…

Using long-read genome sequencing of unsolved autism families and population controls, postdoc Sui @Kate19155783 et al. identify pathogenic & candidate variants missed by short-read sequencing and the value of phased pangenomes to enrich in rare variants. pmc.ncbi.nlm.nih.gov/articles/PMC12…

Congrats Xavi Guitart on a successful thesis defense! Your hard work and perseverance have paid off. Your incredible determination throughout your graduate journey will aid in your next scientific endeavors as well! Cheers!

We assembled the acrocentric short arms of 23 samples from a 4-generation pedigree, revealing unique mutational and recombination patterns from these highly repetitive regions that are usually excluded in the genetic analysis. Preprint: biorxiv.org/content/10.648…

Check out new AoU collaboration paper: Long-read sequencing of 1027 All of Us participants self-identified as African American discovers new structural variant disease associations: medrxiv.org/content/10.110… @EichlerEE @uwgenome @KiranGarimella

Thank you, Dr. Danny Miller, for hosting, and fantastic job, Dr. @fkmastrorosa! brotmanbaty.org/news/long-read…

Link to paper: pubmed.ncbi.nlm.nih.gov/40848717/

Recent PhD grad Dishuck unveiled NPIP structural variation & evolutionary dynamics across 169 human haplotypes—revealing brain-expressed paralogs, selective sweeps & neofunctionalization. 🎧 @BasebyBasePod Ep. 129: Dives into NPIP’s role in our genome: basebybase.castos.com/episodes/struc…

🧬 How fast do humans mutate? Our groundbreaking study tracks DNA changes across 4 generations to reveal the pace of human evolution revealing insights into our genetic legacy. Watch now 👉 youtu.be/6TTCZdZd4Y4 #Genetics #Evolution #ScienceVideo #Nature

Check out our postdoc's updated preprint!

Using >130 human & 12 primate haplotypes, we reconstruct the chromosome 22q11.2 evolution to identify haplotype structures linked to deletions or inversions, explaining the lower prevalence of 22q11.2 deletion syndrome in individuals of African descent. biorxiv.org/content/10.110…

The Eichler lab's new, revamped website is now live! Learn more about the lab's research and scientists @ eichler.gs.washington.edu

Always fun to see the "band" get back together! Cheers to former lab members!

Our Nature paper (rdcu.be/ei1NM) deep sequencing a 4-generation, 28-member family using multiple sequencing technologies to study transmission of all classes of genetic variation is out! @EichlerEE @uwgenome @HHMINEWS

Check it out! Telomere-to-telomere ape genome assemblies reveal new biology & insights into evolution: rdcu.be/eg47u Nature News: nature.com/articles/d4158… Nature Podcast: nature.com/articles/d4158… @DongahnYoo @EichlerEE @uwgenome @HHMINEWS

Check out this ASHG podcast episode with our grad student Lizzie Plender! She talks about how she got into genetics and why mucins are the "coolest" genes out there: ashg.org/publications-n… podcasts.apple.com/us/podcast/tra…

Our new Nature Genetics paper on human segmental duplications (SDs) provides a pangenome perspective of SDs, new potential protein-coding genes, and greater complexity in human variation with implications for disease and evolution. rdcu.be/d5AD9