Glennis Logsdon

Glennis Logsdon

@glennislogsdon.bsky.social

Assistant Professor of Genetics and Core Member of the Epigenetics Institute at UPenn | T2T, HPRC, and HGSVC member | Loves genomics, epigenomics, and synthetic biology | logsdonlab.com

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Glennis Logsdon reposted

The discovery of the first kinetochore proteins (CENP-A, CENP-B, CENP-C) was reported by Bill Earnshaw and Naomi Rothfield in 1985 in Chromosoma. Forty years later, Chromosoma/Chromosome Research has published a special issue (most articles are open access) link.springer.com/collections/...

link.springer.com40 years of CENP-AIn 1985, Earnshaw and Rothfield published in Chromosoma a landmark discovery of the centromere-specific protein CENP-A. Subsequent research has shown that ...
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Our work reveals an "arms race" between centromeric sequences and proteins, with frequent mutations within the site of the kinetochore that lead to changes in genetic and epigenetic landscapes and, ultimately, rapid evolution of these critically important regions.

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Finally, comparison with 6,230 centromeres assembled by the HPRC and a 4-generation pedigree (8,340 centromeres total) reveals that centromeres vary in mutation rate by >50-fold. Surprisingly, the kinetochore site is often the most rapidly mutating region in the centromere.

We find that the location of the kinetochore depends on the underlying sequence and structure of the centromere, with some chromosomes having a single kinetochore location and others having multiple, distinct locations that stratify by haplotype structure.

Glennis Logsdon reposted

It's exciting to see the continuing legacy of T2T sequencing methods being discussed on @scifri.bsky.social ! 🧬 Complete genomes are helping us understand more and more about genetic function and diversity in areas of our DNA that were unreadable just a few years ago.

Adam Phillippy@aphillippy.bsky.social

Complete genomes alert! @glennislogsdon.bsky.social, @christinebeck.bsky.social, and I were on @scifri.bsky.social today talking about "Complex genetic variation in nearly complete human genomes" 📄 www.nature.com/articles/s41... 📻 www.sciencefriday.com/segments/65-...

Glennis Logsdon reposted

This was both fun and terrifying to tape! Awesome to talk with @glennislogsdon.bsky.social and @aphillippy.bsky.social about our sequencing data / paper, the improvements to large-scale sequencing projects, and what this means for our understanding of our DNA!

Adam Phillippy@aphillippy.bsky.social

Complete genomes alert! @glennislogsdon.bsky.social, @christinebeck.bsky.social, and I were on @scifri.bsky.social today talking about "Complex genetic variation in nearly complete human genomes" 📄 www.nature.com/articles/s41... 📻 www.sciencefriday.com/segments/65-...

Glennis Logsdon reposted

Glennis Logsdon reposted

Telomere-to-telomere DNA sequencing is set to transform the field of human genetics in coming years. For a flavour of what's coming, see this exciting work on nearly complete genomes of 65 individuals from diverse populations, out today in @nature.com by @glennislogsdon.bsky.social & colleagues. 👇🧬🧪

nature.comComplex genetic variation in nearly complete human genomes - NatureUsing sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

Glennis Logsdon reposted

Glennis Logsdon reposted

Glennis Logsdon reposted

We demonstrate a single-platform solution for complete T2T genomes on the ONT PromethION: Duplex + Ultra-long + Pore-C, aka "TNT" 🧨 Expecting rapid improvements in the coming year. Congrats @sergek.bsky.social @zbao.bsky.social @awngs.bsky.social @awngs.bsky.social @khmiga.bsky.social et al.!

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