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Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes

2024-08-11

Abstract excerpt

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 HLA , SMN , and CYP2D6 , and 212 challenging medic...

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Literature Corpus work: bc0d8ca7-1e51-53ef-b8ba-828de670df1f
DOI: 10.1101/2024.08.11.607269

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