Genotyping sequence-resolved copy-number variations using pangenomes reveals paralog-specific global diversity and expression divergence of gene duplication.

• Tác giả: Mark Jp Chaisson, Walfred Ma
• Ngôn ngữ: eng
• Ký hiệu phân loại: 781.5242 *Kinds of music
• Thông tin xuất bản: United States : bioRxiv : the preprint server for biology , 2025
• Bộ sưu tập: NCBI
• ID: 677413

Tóm tắt

Copy-number variable (CNV) genes are important in evolution and disease, yet sequence variation in CNV genes remains a blindspot in large-scale studies. We present ctyper, a method that leverages pangenomes to produce allele-specific copy numbers with locally phased variants from NGS reads. Benchmarking on 3,351 CNV genes including