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| Sequence Alignment× | Genom-szintű asszociációs vizsgálat (GWAS)× | |
|---|---|---|
| Tudományterület | Bioinformatika | Bioinformatika |
| Módszercsalád | Process / pipeline | Process / pipeline |
| Keletkezés éve≠ | 1970 (global alignment); 1981 (local alignment) | 2005–2007 |
| Megalkotó≠ | Saul 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) |
| Típus≠ | Computational sequence analysis technique | Observational genomic association study |
| Alapmű≠ | 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 ↗ | 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 ↗ |
| Alternatív nevek | pairwise alignment, multiple sequence alignment, MSA, sequence comparison | GWAS, genome-wide association analysis, whole-genome association study, WGAS |
| Kapcsolódó | 6 | 6 |
| Összefoglaló≠ | 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. | 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. |
| ScholarGateAdatkészlet ↗ |
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