bioRxivBioinformaticsPreprint
ybyra: Y-chromosome haplogroup calling using a tree-based scoring method
Thomaz PinottiiD, Hugh McColliD, Martin SikoraiD, Lucas CzechiD
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.
- organism: human
- organism: multiple species
- assay: whole-genome sequencing
- research focus: variant calling
- approach: statistical model
- Citations
- 1
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