233-Ctyper: Genotyping CNV Using Pangenomes

Paper Talk · Nov 15, 2025 · 19m

This paper describes ctyper, a novel computational method for accurately genotyping sequence-resolved copy number variation (CNV), particularly in complex or medically relevant genes, by leveraging human pangenome reference assemblies and next-generation sequencing data. The authors establish that ctyper is both highly accurate and computationally efficient enough for large-scale biobank analysis, outperforming current methods in capturing phased variants and copy numbers for genes like HLA and CYP2D6. Furthermore, the application of ctyper revealed new insights into global population…