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복사본 수 변이 분석×Sequence Alignment×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도1998–20061970 (global alignment); 1981 (local alignment)
창시자Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map)Saul B. Needleman & Christian D. Wunsch (global); Temple F. Smith & Michael S. Waterman (local)
유형Genomic structural variant detection pipelineComputational sequence analysis technique
원전Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454. DOI ↗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 ↗
별칭CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysispairwise alignment, multiple sequence alignment, MSA, sequence comparison
관련66
요약Copy number variation (CNV) analysis is a genomic pipeline for detecting regions where individuals carry fewer or more copies of a DNA segment than the reference genome. CNVs span kilobases to megabases and are a major class of structural variation implicated in cancer, neurodevelopmental disorders, and population diversity. The pipeline typically processes SNP array intensities or read-depth signals from whole-genome sequencing, applies segmentation algorithms, calls gain and loss events, and annotates them against gene and clinical databases.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.
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