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How accurate is the current picture of human genetic variation?

Romero, I. G.; Manica, A.; Goudet, J.; Handley, L. L.; Balloux, F.


I. G. Romero

A. Manica

J. Goudet

F. Balloux


Our understanding of the distribution of worldwide human genomic diversity has greatly increased over recent years thanks to the availability of large data sets derived from short tandem repeats (STRs), insertion deletion polymorphisms (indels) and single nucleotide polymorphisms (SNPs). A concern, however, is that the current picture of worldwide human genomic diversity may be inaccurate because of biases in the selection process of genetic markers (so-called 'ascertainment bias'). To evaluate this problem, we first compared the distribution of genomic diversity between these three types of genetic markers in the populations from the HGDP-CEPH panel for evidence of bias or incongruities. In a second step, using a very relaxed set of criteria to prevent the intrusion of bias, we developed a new set of unbiased STR markers and compared the results against those from available panels. Contrarily to recent claims, our results show that the STR markers suffer from no discernible bias, and can thus be used as a baseline reference for human genetic diversity and population differentiation. The bias on SNPs is moderate compared to that on the set of indels analysed, which we recommend should be avoided for work describing the distribution of human genetic diversity or making inference on human settlement history.


Romero, I. G., Manica, A., Goudet, J., Handley, L. L., & Balloux, F. (2009). How accurate is the current picture of human genetic variation?. Heredity, 102(2), 120-126.

Journal Article Type Article
Acceptance Date Jul 11, 2008
Online Publication Date Sep 3, 2008
Publication Date Feb 24, 2009
Print ISSN 0018-067X
Electronic ISSN 1365-2540
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 102
Issue 2
Pages 120-126
Keywords Genetics(clinical); Genetics
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