方法对比

	序列比对	变异检测
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	1970 (global alignment); 1981 (local alignment)	2009–2010 (modern high-throughput era)
提出者	Saul B. Needleman & Christian D. Wunsch (global); Temple F. Smith & Michael S. Waterman (local)	Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)
类型	Computational sequence analysis technique	Computational genomics pipeline
开创性文献	Needleman, S. B., & Wunsch, C. D. (1970). A general method applicable to the search for similarities in the amino acid sequence of two proteins. Journal of Molecular Biology, 48(3), 443–453.	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.
别名	pairwise alignment, multiple sequence alignment, MSA, sequence comparison	SNP calling, genotyping from sequencing, mutation detection, variant detection
相关	6	6
摘要	Sequence alignment is a foundational bioinformatics technique that arranges two or more DNA, RNA, or protein sequences to reveal regions of similarity, infer evolutionary relationships, identify functional domains, and map sequencing reads to reference genomes. It underpins virtually every downstream genomic analysis, from variant calling and gene expression quantification to phylogenetics and structural annotation.	Variant calling is the computational process of identifying positions in a sequenced genome that differ from a reference sequence — including single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and structural variants. It transforms aligned sequencing reads into an interpretable catalogue of genetic differences, forming the foundation for population genetics, disease-gene discovery, and clinical genomics applications.