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Article

Gene copy-number polymorphism caused by retrotransposition in humans.

PLoS genetics - 1 Jan 2013

Schrider Daniel R, Navarro Fabio C P, Galante Pedro A F, Parmigiani Raphael B, Camargo Anamaria A, Hahn Matthew W, de Souza Sandro J

Abstract excerpt

The era of whole-genome sequencing has revealed that gene copy-number changes caused by duplication and deletion events have important evolutionary, functional, and phenotypic consequences. Recent studies have therefore focused on revealing the extent of variation in copy-number within natural populations of humans and other species. These studies have found a large number of copy-number variants (CNVs) in...

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PMID: 23359205
DOI: 10.1371/journal.pgen.1003242
PMCID: PMC3554589

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