Detection of large-scale variation in the human genome - PubMed

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• PMID: 15286789
• DOI: 10.1038/ng1416

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Detection of large-scale variation in the human genome

A John Iafrate et al. Nat Genet. 2004 Sep.

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Abstract

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

Comment in

• As normal as normal can be?

  Carter NP. Carter NP. Nat Genet. 2004 Sep;36(9):931-2. doi: 10.1038/ng0904-931. Nat Genet. 2004. PMID: 15340426

• Frequency of new copy number variation in humans.

  van Ommen GJ. van Ommen GJ. Nat Genet. 2005 Apr;37(4):333-4. doi: 10.1038/ng0405-333. Nat Genet. 2005. PMID: 15800641 No abstract available.

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