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The Human Genome Puzzle &#x2014; the Role of Copy Number Variation in Somatic Mosaicism

1 Sept 2010

Abstract excerpt

The discovery of copy number variations (CNV) in the human genome opened new perspectives in the study of the genetic causes of inherited disorders and the etiology of common diseases. Differently patterned instances of somatic mosaicism in CNV regions have been shown to be present in monozygotic twins and throughout different tissues within an individual. A single-cell-level investigation of CNV in different...

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PMID: 21358987
DOI: 10.2174/138920210793176047

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