Rare k-mers reveal centromere haplogroups underlying human diversity and cancer translocations
Yuichi Shiraishi, Yotaro Ochi, Masahiro Sugawa, Yoshitaka Sakamoto, Keisuke Kimura, Taro Tsujimura, Ai Okada, Rurika Okuda, Shinichi Namba, Tsubasa Miyauchi, Raúl Nicolás Mateos, Hajime Suzuki, Kenichi Chiba, Yu Ito, Wataru Nakamura, , Seishi Ogawa
This paper uses rare k-mers to identify centromere haplogroups in human populations and cancer translocations, revealing structural diversity and translocation mechanisms.
bioRxiv · Jul 26, 2025 · PreprintGenomics