ArticlebioRxiv : the preprint server for biology2025
Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes.
Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Copy number variant (CNV) genes are important in evolution and disease, yet sequence variation in CNV genes remains a blind spot in large-scale studies. We present ctyper, a method that leverages pangenomes to produce allele-specific copy numbers with locally phased variants from next-generation sequencing (NGS) reads. Benchmarking on 3,351 CNV genes, including
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