Widespread structural variations at human chromosome ends
Kar‐Tong Tan, Ryan Jun Xiang Ong, Brandon Bing Rui Kee, Russell Ker Han Yap, Alicia Jun Ting Ng, Gihan Kaushalya Rajapaksha, Max Garrity-Janger, Qiyu Lin, Jerome Rui Chong, Cin thet Kyi, Matthew M. Meyerson, Heng Li
This study presents complete subtelomeric sequences from diverse populations, revealing extensive haplotype diversity and gene copy-number variation associated with chromosome arms.
bioRxiv · Sep 6, 2026 · PreprintGenomics