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.

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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
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preprint

Measuring satellite arrays of the human Y chromosome from sequencing reads

Andrea Guarracino, Alejandro Ortigas-Vásquez
bioRxiv (Cold Spring Harbor Laboratory)
Chromosomal and Genetic Variations
preprint

Measuring satellite arrays of the human Y chromosome from sequencing reads

Andrea Guarracino, Alejandro Ortigas-Vásquez
preprint en

Abstract

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.

bioRxiv (Cold Spring Harbor Laboratory)
Translational Genomics Research Institute (US)
Chromosomal and Genetic Variations
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