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EichlerLab

@eichlerlab.bsky.social

107 followers 27 following 16 posts

eichler.gs.washington.edu

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EichlerLab @eichlerlab.bsky.social · 20/05/2026

Trivedi @mihirisback.bsky.social et al. assemble & characterize 8 lemur species centromeres showing they do not contain α-satellites & have a different motif for each genus, pointing to their imperative role in lemur radiation. doi.org/10.64898/202... @uwgenome.bsky.social @hhmi-science.bsky.social

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EichlerLab @eichlerlab.bsky.social · 23/04/2026

Porubsky 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. @uwgenome.bsky.social doi.org/10.1038/s414...

https://doi.org/10.1038/s41467-026-71905-y

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EichlerLab @eichlerlab.bsky.social · 01/04/2026

Using long-read genome sequencing of unsolved autism families & population controls, postdoc Sui @suiyang0122.bsky.social et al. identify pathogenic & candidate variants missed by short-read sequencing & the value of phased pangenomes to enrich in rare variants. pmc.ncbi.nlm.nih.gov/articles/PMC...

Nature Communications paper snapshot; @uwgenome.bsky.social @hhmi-science.bsky.social

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EichlerLab @eichlerlab.bsky.social · 22/01/2026

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! @uwgenome.bsky.social

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EichlerLab @eichlerlab.bsky.social · 23/12/2025

We assembled acrocentric short arms of 23 samples from a 4-generation pedigree, revealing unique mutational & recombination patterns from these highly repetitive regions usually excluded in genetic analysis. Preprint: www.biorxiv.org/content/10.6... @uwgenome.bsky.social @hhmi-science.bsky.social

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EichlerLab @eichlerlab.bsky.social · 25/09/2025

Thank you Dr. Danny Miller @danrdanny.bsky.social for hosting, and fantastic job Dr. Mastrorosa @fkma.bsky.social! @uwgenome.bsky.social brotmanbaty.org/news/long-re...

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EichlerLab @eichlerlab.bsky.social · 09/09/2025

Recent PhD grad Dishuck unveiled NPIP structural variation & evolutionary dynamics across 169 human haplotypes—revealing brain-expressed paralogs & more: pubmed.ncbi.nlm.nih.gov/40848717 🎧 Base by Base Ep 129: Dives into NPIP’s role in our genome: basebybase.castos.com/episodes/str... @hhmi.org

https://pubmed.ncbi.nlm.nih.gov/40848717/

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EichlerLab @eichlerlab.bsky.social · 08/07/2025

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. @hhmi.org @uwgenome.bsky.social

https://www.biorxiv.org/content/10.1101/2025.07.04.662981v2

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EichlerLab @eichlerlab.bsky.social · 16/05/2025

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

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