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基于网络的变异检测 — 图基因组分型

基于网络的（图基因组）变异检测使用变异图谱（一种节点代表序列片段、边代表基因组已知替代路径的网络）取代了传统的单一线性参考基因组。将测序读段比对到该图谱上，可以检测出SNP、indel和结构变异，且参考偏倚远低于线性参考流程。关键工具包括变异图谱工具包（vg）和Graphtyper。

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基于网络的变异检测
贝叶斯变异检测拷贝数变异分析全基因组关联研究 (GWAS)RNA-seq差异表达序列比对变异检测

来源

  1. Garrison, E., Sirén, J., Novak, A. M., Hickey, G., Eizenga, J. M., Dawson, E. T., Jones, W., Garg, S., Markello, C., Lin, M. F., Paten, B., & Durbin, R. (2018). Variation graph toolkit improves read mapping by representing genetic variation in the reference. Nature Biotechnology, 36(9), 875–879. DOI: 10.1038/nbt.4227 ↗
  2. Eggertsson, H. P., Jonsson, H., Kristmundsdottir, S., Hjartarson, E., Kehr, B., Masson, G., Zink, F., Hjorleifsson, K. E., Jonasdottir, A., Jonasdottir, A., Jonsdottir, I., Gudbjartsson, D. F., Melsted, P., Stefansson, K., & Halldorsson, B. V. (2017). Graphtyper enables population-scale genotyping using pangenome graphs. Nature Genetics, 49(11), 1654–1660. DOI: 10.1038/ng.3964 ↗

如何引用本页

ScholarGate. (2026, June 3). Network-based (Graph-genome) Variant Calling. ScholarGate. https://scholargate.app/zh/bioinformatics/network-based-variant-calling

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ScholarGate — Network-based variant calling (Network-based (Graph-genome) Variant Calling). 于 2026-06-15 检索自 https://scholargate.app/zh/bioinformatics/network-based-variant-calling · 数据集： https://doi.org/10.5281/zenodo.20539026