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Cell Press, Trends in Genetics, 6(21), p. 315-317

DOI: 10.1016/j.tig.2005.04.007

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Copy-number polymorphisms: Mining the tip of an iceberg

This paper is available in a repository.
This paper is available in a repository.

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Abstract

Copy-number polymorphisms (CNPs) represent a greatly underestimated aspect of human genetic variation. Recently, two landmark studies reported genome-wide analyses of CNPs in normal individuals and represent the beginning of an understanding of this type of large-scale variation. Future array-CGH-based CNP analyses should include standard criteria on a common microarray platform. It is only when parallel analyses of CNPs and SNPs are performed in an integrated format that we will obtain a global picture of our genetic diversity.