这篇文章介绍了名为 ctyper 的新方法，该方法利用 泛基因组 来对 拷贝数变异 (CNV) 基因进行 等位基因特异性基因分型。ctyper 通过使用 下一代测序 (NGS) 样本中的 泛基因组衍生等位基因 (PAs) 和 无比对 k-mer 计数，解决了大型研究中 CNV 基因序列变异的挑战。报告 基准测试 了 ctyper 在 CNV 和具有医学挑战性的基因上的 高准确性 和 计算效率，并展示了其在预测基因表达方面相比聚合拷贝数和已知 eQTL 位点的 显著改进。研究人员利用 ctyper 发现 CNV 在全球人群中表现出 群体特异性多样性，并确定了 旁系同源基因表达分化 的实例，例如 SMN 基因 和 AMY2B 易位 基因。References: Ma W, Chaisson M J P. Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes[J]. Nature Genetics, 2025: 1-11.
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