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Open Access Highly Accessed Research article

Calculating expected DNA remnants from ancient founding events in human population genetics

Andrew Stacey13, Nathan C Sheffield2* and Keith A Crandall2

  • * Corresponding author: Nathan C Sheffield ncs@byu.net

  • † Equal contributors

Author Affiliations

1 Department of Statistics, Brigham Young University, Provo, UT 84602, USA

2 Department of Biology, Brigham Young University, Provo, UT 84602, USA

3 Battelle Center for Mathematical Medicine, Nationwide Children's Hospital, the Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA

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BMC Genetics 2008, 9:66  doi:10.1186/1471-2156-9-66

Published: 17 October 2008

Abstract

Background

Recent advancements in sequencing and computational technologies have led to rapid generation and analysis of high quality genetic data. Such genetic data have achieved wide acceptance in studies of historic human population origins and admixture. However, in studies relating to small, recent admixture events, genetic factors such as historic population sizes, genetic drift, and mutation can have pronounced effects on data reliability and utility. To address these issues we conducted genetic simulations targeting influential genetic parameters in admixed populations.

Results

We performed a series of simulations, adjusting variable values to assess the affect of these genetic parameters on current human population studies and what these studies infer about past population structure. Final mean allele frequencies varied from 0.0005 to over 0.50, depending on the parameters.

Conclusion

The results of the simulations illustrate that, while genetic data may be sensitive and powerful in large genetic studies, caution must be used when applying genetic information to small, recent admixture events. For some parameter sets, genetic data will not be adequate to detect historic admixture. In such cases, studies should consider anthropologic, archeological, and linguistic data where possible.