Article
Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history.
Genome research - 1 Dec 2008
Kim Philip M, Lam Hugo Y K, Urban Alexander E, Korbel Jan O, Affourtit Jason, Grubert Fabian, Chen Xueying, Weissman Sherman, Snyder Michael, Gerstein Mark B
Abstract excerpt
Segmental duplications (SDs) are operationally defined as >1 kb stretches of duplicated DNA with high sequence identity. They arise from copy number variants (CNVs) fixed in the population. To investigate the formation of SDs and CNVs, we examine their large-scale patterns of co-occurrence with different repeats. Alu elements, a major class of genomic repeats, had previously been identified as prime drivers of SD...
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