@EichlerLab

Eichler Lab @UW Twitter @uwgenome #hhmi

eichler.gs.washington.edu/
Joined April 2022
  • Tweets84
  • Following135
  • Followers1.5K
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I'm thrilled to share our latest research on the human chromosome 2 fusion, addressing a basic question: "What makes us uniquely human?". Our work is now live on BioRxiv! (biorxiv.org/content/10.1101/…). @EichlerLab We’d love to hear your thoughts and feedback! :)

Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site...

All great apes differ karyotypically from humans due to the fusion of chromosomes 2a and 2b, resulting in human chromosome 2. Yet, the structure, function, and evolutionary history of the genomic...

biorxiv.org
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I'm absolutely thrilled to share that our work on human centromere variation and evolution has been published in @Nature! We completely sequenced all centromeres from a second human genome & compared them to those from the first complete human genome, uncovering new sequences, structures, & epigenetic landscapes
nature
@Nature3 Apr 2024
Nature research paper: The variation and evolution of complete human centromeres go.nature.com/3VJjaOg
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🧬Happy DNA Day🧬 Sincerely, Eichler Lab
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Centromeres, vital for genetic integrity during cell division, vary greatly in structure & genomic sequence, @Nature study shows @EichlerLab @uwgenome @glennis_logsdon @PennMedicine tinyurl.com/2hbumxnu

Study gives first view of centromere variation and evolution - UW Medicine | Newsroom

News and information for journalists

newsroom.uw.edu
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Happy to share our work on Down syndrome! We sequenced and assembled all chr21 centromeres of a parent-proband trio with Trisomy 21 (MMIE) revealing centromere asymmetry and differences in kinetochore attachment @glennis_logsdon @EichlerLab @EichlerEE shorturl.at/fnRV0
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EichlerLab retweeted
Yafei 亚飞@yafmao922 Mar 2024
🎊Excited to see our work published (cell.com/cell/fulltext/S0092…). Huge thanks to all co-authors, the editor, and everyone involved for your efforts in making this happen. @EichlerLab @Sara_Sawyer_ @Carbone_Lab @glennis_logsdon @BenedictPaten @brainevodevo and all other authors.

Structurally divergent and recurrently mutated regions of primate genomes

Analysis of high-quality, haplotype-resolved primate genomes provides a more complete understanding of lineage-specific, recurrent mutations and structurally divergent regions associated with primate...

cell.com
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Excited to share our new work using synchronized #Fiberseq + #MASSeq (i.e. long-read multi-ome sequencing) to resolve Mendelian conditions as part of the @UDNconnect. Many thanks to the family, collaborators, @uwmnewsroom, @BrotmanBaty, @PacBio, and @NIH. biorxiv.org/content/10.1101/…

Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian...

Resolving the molecular basis of a Mendelian condition (MC) remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized...

biorxiv.org
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Join me and Dr. Evan Eichler, one of the key contributors to @HumanPangenome, today at 3 p.m. ET as we answer your questions genomic variants, the pangenome and the importance of having global diversity in genomics research! Send us your questions using #AskDrGenome.
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Excited to announce the first view of human centromere variation! We completely sequenced all centromeres from a second human genome & compared them to those from the first complete human genome, uncovering new sequences, structures, & chromatin landscapes biorxiv.org/content/10.1101/…
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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/ear…
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.@UWMedicine postdoctoral researcher @mrvollger is once again playing a vital role in helping science better understand the human genome. Hear his perspective on why assembling a diverse #HumanPangenome reference is worth the work. @HumanPangenome @uwgenome @genome_gov
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The @HumanPangenome mission for inclusion, as described by @UWMedicine @EichlerLab acting instructor @PorubskyDavid Learn more about this effort: newsroom.uw.edu/news/uw-medi… @uwgenome @genome_gov #HumanPangenome
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Scientists Unveil a More Diverse Human Genome nytimes.com/2023/05/10/scien…

Scientists Unveil a More Diverse Human Genome (Published 2023)

The “pangenome,” which collated genetic sequences from 47 people of diverse ethnic backgrounds, could greatly expand the reach of personalized medicine.

nytimes.com
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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.…

Inversion polymorphism in a complete human genome assembly

Genome Biology - The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion...

link.springer.com
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I am thrilled to announce that our work is now available on BioRxiv (biorxiv.org/content/10.1101/…)! Our study sheds light on how structurally divergent regions evolve rapidly within and between primate species. RGPD is a particularly fascinating story to highlight. @EichlerLab

Structurally divergent and recurrently mutated regions of primate genomes

To better understand the pattern of primate genome structural variation, we sequenced and assembled using multiple long-read sequencing technologies the genomes of eight nonhuman primate species,...

biorxiv.org
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I'm at #ASHG! If you like long read sequencing and de novo mutations, you can catch my talk at 11:15am on Saturday in the expanding roles of repeats session
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Do the short arms of heterologous human acrocentric chromosomes recombine? Thanks to the @HumanPangenome project, we can study such dark regions in the human pangenome, and... something is happening in the population! Check the preprint at biorxiv.org/content/10.1101/….
bioRxiv@biorxivpreprint16 Aug 2022
Recombination between heterologous human acrocentric chromosomes biorxiv.org/cgi/content/shor… #bioRxiv
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Thrilled about hosting a meeting about structural variants here at @HHU_de on Sept 1 with amazing speakers: @EichlerEE @khmiga @christinerbeck @benjraphael @HufsahA @sedlazeck @LabSchneeberger @BorkhardtArndt @CarstenWatzl. Registration is open: bmfz.hhu.de/news-detail/bmfz…
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Two @biorxivpreprint preprints about the complexity of ~400 medically relevant genes and how to better represent them. Nicely showcasing their complexity across the human population and the power of pangenomics. #Bioinformatics #genomics @BCM_HGSC @RiceCompSci (1/3)
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I'm excited to share that I've officially been awarded the K99/R00 from @NIH @NIGMS, which will fund my current and future research on human centromere variation and function! Thank you to my mentors, colleagues, & collaborators who have supported & encouraged me over the years!
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