Rare k-mers reveal centromere haplogroups underlying human diversity and cancer translocations.

Rare k-mers in centromeric regions define distinct haplogroups with structural features linked to human diversity and disease susceptibility.

• Why it matters: Centromeres are highly variable yet poorly characterized due to their repetitive structure, limiting understanding of their role in population history and disease.
• What they did: Researchers developed ascairn to infer centromere haplogroups from short-read WGS data and applied it to over 3,300 genomes, analyzing 142 oligodendroglioma cases with 1p/19q co-deletion.
• The result: The study revealed extensive global diversity in centromere haplogroups and a positional relationship between breakpoints and kinetochore sites, linking centromere structure to genomic instability and evolution.