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Methods to detect CNVs in the human genome

1 Jan 2008

Abstract excerpt

The detection of quantitative changes in genomic DNA, i.e. deletions and duplications or Copy Number Variants (CNVs), has recently gained considerable interest. First, detailed analysis of the human genome showed a surprising amount of CNVs, involving thousands of genes. Second, it was realised that the detection of CNVs as a cause of genetic disease was often neglected, but should be an essential part of a...

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PMID: 19287170
DOI: 10.1159/000184723

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