Joined April 2022
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EichlerLab retweeted
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! :)
EichlerLab retweeted
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 research paper: The variation and evolution of complete human centromeres go.nature.com/3VJjaOg
EichlerLab retweeted
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
EichlerLab retweeted
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
EichlerLab retweeted
🎊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.
EichlerLab retweeted
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/…
EichlerLab retweeted
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.
EichlerLab retweeted
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/…
EichlerLab retweeted
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…
EichlerLab retweeted
.@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
EichlerLab retweeted
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
EichlerLab retweeted
Scientists Unveil a More Diverse Human Genome
nytimes.com/2023/05/10/scien…
EichlerLab retweeted
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.…
EichlerLab retweeted
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
EichlerLab retweeted
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
EichlerLab retweeted
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/….
Recombination between heterologous human acrocentric chromosomes biorxiv.org/cgi/content/shor… #bioRxiv
EichlerLab retweeted
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…
EichlerLab retweeted
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)
