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bioRxiv · 10.1101/2025.11.20.689455

ybyra: Y-chromosome haplogroup calling using a tree-based scoring method

Pinotti, T.·McColl, H.·Sikora, M.·Czech, L.
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Abstract

We present ybyra, a Snakemake workflow for automated Y-chromosome haplogroup assignment using a tree-based scoring method with robust and transparent heuristics. The pipeline supports both human reference genome builds 37 and 38, makes use of three different well-curated Y-SNP tree topologies and features an optional ancient DNA damage filter to accommodate low-coverage degraded samples. ybyra produces reproducible, scalable haplogroup calls with detailed scoring outputs to facilitate quality assessment and reporting. We further showcase its versatility by applying it to horse Y-chromosome data, highlighting its applicability beyond humans. Availabilityybyra is published under the MIT license and freely available at github.com/tpinotti/ybyra.

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Pinotti, T., McColl, H., Sikora, M., Czech, L.. 2025-11-20. ybyra: Y-chromosome haplogroup calling using a tree-based scoring method. https://doi.org/10.1101/2025.11.20.689455

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