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Genomics

Understanding human diversity

Nature volume 437, pages 1241–1242 (2005)Cite this article

The first edition of a massive catalogue of human genetic variation is now complete. The long-term task is to translate these data into an understanding of the effects of that variation on human health.

The human genome has about 10 million ‘polymorphisms’, defined as genetic variants in which the minor gene forms occur at least once out of every 100 forms. Any two unrelated humans have millions of genetic differences, making them look and even behave differently. This variation is the magnificent legacy of our evolutionary past, but it comes at a price. Along with making us different in benign and interesting ways, genetics also influences health.

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Authors and Affiliations

  1. Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, DUMC Box 3471, 103 Research Drive, Durham, 27710, North Carolina, USA

    David B. Goldstein & Gianpiero L. Cavalleri

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  1. David B. Goldstein
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  2. Gianpiero L. Cavalleri
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Goldstein, D., Cavalleri, G. Understanding human diversity. Nature 437, 1241–1242 (2005). https://doi.org/10.1038/4371241a

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