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Nature 444, 428-429 (23 November 2006) | doi:10.1038/444428a; Published online 22 November 2006
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Human genomics: In search of normality
Kevin V. Shianna1 & Huntington F. Willard1
Abstract
The first map of copy-number variation in the human genome has been created. It is now feasible to examine the role of such genome variation in disease and to explore in depth the extent of 'normal' variability.
The human genome contains many forms of genetic variation. The most plentiful are the millions of single base-pair changes in the DNA code that were identified in the course of determining the human genome sequence, and then more systematically through the International HapMap Project1.
- Kevin V. Shianna and Huntington F. Willard are at the Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina 27708, USA.
Email: k.shianna@duke.edu
Email: hunt.willard@duke.edu
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Integrated detection and population-genetic analysis of SNPs and copy number variationNature Genetics Article (01 Oct 2008)
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