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Sequence Alignment×전장 유전체 연관 분석 (GWAS)×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도1970 (global alignment); 1981 (local alignment)2005–2007
창시자Saul B. Needleman & Christian D. Wunsch (global); Temple F. Smith & Michael S. Waterman (local)Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
유형Computational sequence analysis techniqueObservational genomic association study
원전Needleman, 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 ↗Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678. link ↗
별칭pairwise alignment, multiple sequence alignment, MSA, sequence comparisonGWAS, genome-wide association analysis, whole-genome association study, WGAS
관련66
요약Sequence 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.A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition.
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