Authors
Yuichi Shiraishi, Yotaro Ochi, Masahiro Sugawa, Yoshitaka Sakamoto, Keisuke Kimura, Taro Tsujimura, Ai Okada, Rurika Okuda, Shinichi Namba, Tetsuya Hori, Yoshihisa Kobayashi, Tsubasa Miyauchi, Raúl N Mateos, Hajime Suzuki, Kenichi Chiba, Yu Ito, Wataru Nakamura, Fumiharu Ohka, Kazuya Motomura, Takuya Yamamoto, Yosuke Kawai, Yukinori Okada, Hiromichi Suzuki, Tatsuo Fukagawa, Motohiro Kato, Ryuta Saito, Erik Garrison, Glennis A Logsdon, Seishi Ogawa
Published in
Cell. Oct 13, 2026. Epub Oct 13, 2026.
Abstract
Human centromeres are highly variable but remain among the least characterized regions of the genome because their repetitive structure has hindered conventional analysis of population diversity and disease relevance. Here, we show that rare k-mers in centromeric regions capture lineage-specific variation, defining discrete haplogroups with distinct structural features. We developed ascairn to infer these haplogroups from short-read whole-genome sequencing (WGS) data. Applying this framework to >3,300 genomes reveals extensive global diversity in centromere haplogroups and signatures of population history. Analyzing short-read WGS data from 142 oligodendroglioma cases with 1p/19q co-deletion, we mapped breakpoints to the centromere regions of chromosomes 1 and 19, revealing a clear positional relationship to kinetochore attachment sites and a link between centromere haplotype structure and rearrangement susceptibility. Rare k-mers thus open centromeres to population-scale analysis, linking centromere structural diversity to human evolutionary history and disease-associated genomic instability.
PMID:
42869020
Bibliographic data and abstract were imported from PubMed on 14 Oct 2026.
Read full publication at:
Please sign in
to see all details.
Advertisement
Stats
- Recommendations n/a n/a positive of 0 vote(s)
- Views 11
- Comments 0