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シーケンスアライメント×バリアントコーリング×
分野バイオインフォマティクスバイオインフォマティクス
系統Process / pipelineProcess / pipeline
提唱年1970 (global alignment); 1981 (local alignment)2009–2010 (modern high-throughput era)
提唱者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)
種類Computational sequence analysis techniqueComputational genomics pipeline
原典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. DOI ↗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 ↗
別名pairwise alignment, multiple sequence alignment, MSA, sequence comparisonSNP calling, genotyping from sequencing, mutation detection, variant detection
関連66
概要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.
ScholarGateデータセット
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ScholarGate手法を比較: Sequence Alignment · Variant Calling. 2026-06-15に以下より取得 https://scholargate.app/ja/compare