@EichlerLab

Eichler Lab @UW Twitter @uwgenome #hhmi

eichler.gs.washington.edu/
Joined April 2022
  • Tweets84
  • Following135
  • Followers1.5K
24Media
Check out UW Medicine's feature on the Eichler Lab @EichlerEE @uwgenome @NewsHhmi
UW Medicine@UWMedicineMar 27
Learn more about the people and discoveries behind the science at UW Medicine’s Eichler Lab by visiting uwmedicine.org/about/researc….
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Check out former postdoc Kumara Mastrorosa's @fkmastrorosa AJHG paper.
AJHG@AJHGNewsJun 17
🧬New from @eichlerlab 📄Complete chromosome 21 centromere sequencing of families with Down syndrome cell.com/ajhg/fulltext/S0002…

Complete chromosome 21 centromere sequencing of families with Down syndrome

This article describes the genetic and epigenetic landscapes of chromosome 21 centromeres in families with trisomy 21 and the general population. It reveals an extreme size asymmetry of the two...

cell.com
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Trivedi @Mihir_Tri et al. assemble and characterize centromeres of 8 lemur species and show that these centromeres do not contain α-satellites and have a different motif for each genus, pointing to their imperative role in lemur radiation. doi.org/10.64898/2026.05.16.…
Centromere fluorescent probes as observed on the chromosomes of two species, with high-resolution centromere structures shown with a heatmap, higher-order structure, and methylation profile.

ALT Centromere fluorescent probes as observed on the chromosomes of two species, with high-resolution centromere structures shown with a heatmap, higher-order structure, and methylation profile.

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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/s41467-0…
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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/fullt…
https://www.cell.com/cell-genomics/fulltext/S2666-979X(26)00056-X

ALT https://www.cell.com/cell-genomics/fulltext/S2666-979X(26)00056-X

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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/article…
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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!
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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/10.64898…
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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/10.1101/… @EichlerEE @uwgenome @KiranGarimella

Population-scale Long-read Sequencing in the All of Us Research Program

The All of Us Research Program (AoU) is a national biobank seeking to enroll one million individuals in the United States to link genomic and biomedical data, including short- and long-read whole-g...

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

Long-Read Symposium: Two Presenters Share Their Research and Impressions | Brotman Baty Institute

BBI

brotmanbaty.org
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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/episod…
https://pubmed.ncbi.nlm.nih.gov/40848717/

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

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Link to paper: pubmed.ncbi.nlm.nih.gov/4084…
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🧬 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
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Check out our postdoc's updated preprint!
F. Kumara Mastrorosa@fkmastrorosa18 Jul 2025
We updated our preprint describing chr21 centromere genetics/epigenetics in families with Down syndrome and general population! We found transgenerational methylation changes in a subset of families and that centromere size asymmetry is exclusive to T21! biorxiv.org/content/10.1101/…
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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/10.1101/…
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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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Always fun to see the "band" get back together! Cheers to former lab members!
Can Alkan@calkan_cs29 Apr 2025
Replying to @calkan_cs @devin_locke
Next, pangenome-based segmental duplication discovery and phasing with the boss @EichlerLab w/ @DavisCompGen and @hajirasouliha
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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
UW Medicine Newsroom
@uwmnewsroom23 Apr 2025
Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew @Nature @uwgenome @EichlerLab @UWMedicine @UUtah @PacBio tinyurl.com/w5wydzck
A family tree, with males designated with squares and females with circles. The concept of newly arising mutations is illustrated with leaves of a different appearance. Image courtesy of David Porubsky and modified from Adobe Stock.

ALT A family tree, with males designated with squares and females with circles. The concept of newly arising mutations is illustrated with leaves of a different appearance. Image courtesy of David Porubsky and modified from Adobe Stock.

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Check it out! Telomere-to-telomere ape genome assemblies reveal new biology & insights into evolution: rdcu.be/eg47u Nature News: nature.com/articles/d41586-0… Nature Podcast: nature.com/articles/d41586-0… @DongahnYoo @EichlerEE @uwgenome @HHMINEWS
UW Medicine Newsroom
@uwmnewsroom9 Apr 2025
Polished genomes of 6 ape species - siamang, Borneo & Sumatran orangutan, gorilla, chimp & bonobo - have been assembled & comparatively analyzed. Findings shed new light on human & ape evolution @Nature @Eichlerlab @uwgenome @UWMedicine tinyurl.com/38kpvmcx
Gorilla in Uganda photographed by human and great ape genome expert Evan Eichler, professor of genome sciences at the University of Washington School of Medicine and a Howard Hughes Medical Institute investigator.

ALT Gorilla in Uganda photographed by human and great ape genome expert Evan Eichler, professor of genome sciences at the University of Washington School of Medicine and a Howard Hughes Medical Institute investigator.

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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-news/t… podcasts.apple.com/us/podcas…
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