233-Ctyper: Genotyping CNV Using Pangenomes

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,...去小宇宙查看完整单集简介
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