Jämför metoder

	Analys av kopienummervariationer – detektion och tolkning av CNV	Sekvensinpassning
Ämnesområde	Bioinformatik	Bioinformatik
Familj	Process / pipeline	Process / pipeline
Ursprungsår	1998–2006	1970 (global alignment); 1981 (local alignment)
Upphovsperson	Pinkel 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)
Typ	Genomic structural variant detection pipeline	Computational sequence analysis technique
Ursprungskälla	Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454.	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.
Alias	CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis	pairwise alignment, multiple sequence alignment, MSA, sequence comparison
Närliggande	6	6
Sammanfattning	Copy 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.