Measuring satellite arrays of the human Y chromosome from sequencing reads
Human Y chromosome satellites vary widely but remain difficult to measure in large cohorts. In response, we developed Yruler, which uses pangenome assemblies to measure satellite lengths, composition and Y dosage from sequencing reads without alignment. Analyses reveal centromere-length differences between related lineages, extend observations of short non-centromeric arrays across a lineage, and show unequal component variability and composition changes with heterochromatin length within lineages. Yruler brings satellite variation into population-scale phenotype studies.
Authors
- Andrea Guarracino (ORCID: https://orcid.org/0000-0001-9744-131X)
- Alejandro Ortigas-Vásquez (ORCID: https://orcid.org/0000-0001-5233-9573)
Institutions
- Translational Genomics Research Institute (US)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-11-06
- DOI
- https://doi.org/10.64898/2026.11.04.764422
- Primary Topic
- Chromosomal and Genetic Variations
- Type
- preprint