Abstract

The recent availability of genome-scale genotyping data has led to the identification of regions of the human genome that seem to have been targeted by selection. These findings have increased our understanding of the evolutionary forces that affect the human genome, have augmented our knowledge of gene function and promise to increase our understanding of the genetic basis of disease. However, inferences of selection are challenged by several confounding factors, especially the complex demographic history of human populations, and concordance between studies is variable. Although such studies will always be associated with some uncertainty, steps can be taken to minimize the effects of confounding factors and improve our interpretation of their findings.

Author affiliations

1. Center for Comparative Genomics, University of Copenhagen, Universitetsparken 15, 2100 Kbh Ø, Denmark.
2. Department of Human Genetics, University of Chicago 920 E. 58th Street, Chicago, Illinois 60637, USA.
3. Department of Biological Statistics and Computational Biology, Cornell University, 1198 Comstock Hall, Ithaca, New York 14853, USA.
4. Department of Molecular Biology and Genetics, Cornell University, 107 Biotechnology Building, Ithaca, New York 14853, USA.

Correspondence to: Rasmus Nielsen¹ Email: rasmus@binf.ku.dk

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