The human genome's most variable and clinically important regions (centromeres, telomeres, and acrocentric short arms) have been hardest to study at scale. Thrilled to share KaryoScope, our new preprint that brings them within reach. ๐งต
https://t.co/kmL4TLBLoM
Researchers generated an atlas of telomere-spanning molecules across 212 diploid human genomes, uncovering heritable telomere variant repeat โcodesโ and insights into telomerase-independent telomere extension mechanisms.
Uncover the science behind it:
https://t.co/BWZh7nFD6W
Busy month at the lab. Four new preprints: arm-specific cancer telomere length (Jehangir), pancreatic cancer assembly (Wagner), telomere crisis in astrocytes (Mbegbu), KaryoScope (Ranallo). New(-ish) lab members Shea, Nick, Daniel, Griffin, Divy. Updated https://t.co/lEvrjOs4Kc
Huge credit to co-first authors Mimi Mbegbu and @YA_Chen_PhD, and to collaborators @pipcosper and Tianpeng Zhang.
๐ Preprint: https://t.co/oKnZv6hgo6
Telomere crisis is an engine of genomic instability, driving the structural evolution of cancer genomes. Our new preprint finds this damage isn't random: it converges on the nucleolus and the chromosomes that build it. ๐งต
https://t.co/oKnZv6hgo6
Together: telomere dysfunction preferentially destabilizes acrocentric chromosomes and disrupts the nucleolus they collectively build. The nucleolus emerges as a structural nexus linking telomere crisis to large-scale genome rearrangement.
Excited to share our latest paper, out today @CellCellPress. We found that large pieces of the human genome can transfer between cells upon direct contact, endowing recipient cells with heritable phenotypic changes. (1/7)
https://t.co/SbshGhofN0
๐ Paper: https://t.co/kmL4TLBLoM
๐ป Code*: https://t.co/N0BiB0QUEb
*currently still set to private, opening to the public early next week as we wrap up the software release. In the meantime, dive into the manuscript and share your comments and feedback.
The human genome's most variable and clinically important regions (centromeres, telomeres, and acrocentric short arms) have been hardest to study at scale. Thrilled to share KaryoScope, our new preprint that brings them within reach. ๐งต
https://t.co/kmL4TLBLoM
Annotation is the pangenome era's bottleneck, and KaryoScope is our step toward dissolving it: a framework that any annotation source can plug into. Tremendous thanks to Rhyker for leading this work, and to all co-authors!