Process / pipelineBioinformatics / omics
变异检测 — 基因组变异检测
变异检测是计算过程，用于识别测序基因组中与参考序列不同的位置——包括单核苷酸多态性 (SNP)、小的插入和缺失 (indel) 以及结构变异。它将比对过的测序读段转化为可解释的遗传差异目录，为群体遗传学、疾病基因发现和临床基因组学应用奠定基础。
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来源
- McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., ... & DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303. DOI: 10.1101/gr.107524.110 ↗
- Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., ... & Durbin, R. (2009). The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25(16), 2078–2079. DOI: 10.1093/bioinformatics/btp352 ↗
如何引用本页
ScholarGate. (2026, June 3). Genomic Variant Calling. ScholarGate. https://scholargate.app/zh/bioinformatics/variant-calling
Which method?
Set this method beside its closest kin and read them side by side — the library lays the books on the table; the choice is yours.
- 拷贝数变异分析生物信息学↔ compare
- 表观基因组关联研究 (EWAS)生物信息学↔ compare
- 全基因组关联研究 (GWAS)生物信息学↔ compare
- RNA-seq差异表达生物信息学↔ compare
- 序列比对生物信息学↔ compare
- 单细胞变异检测生物信息学↔ compare