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1 December 2009 Effects of Ascertainment Bias on Recovering Human Demographic History
Elise Eller
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Abstract

In recent years multilocus data sets have been used to study the demographic history of human populations. In this paper (1) analyses previously done on 60 short tandem repeat (STR) loci are repeated on 30 restriction site polymorphism (RSP) markers; (2) relative population weights are estimated from the RSP data set and compared to previously published estimates from STR and craniometric data sets; and (3) computer simulations are performed to show the effects of ascertainment bias on relative population weight estimates. Not surprisingly, given that the RSP markers were originally identified in a small panel of Caucasians, estimates of relative population weights are biased and the European population weight is artificially inflated. However, the effects of ascertainment bias are not apparent in a principal components plot or estimates of FST. Ascertainment bias can have a large effect in other genetic systems with inherently low heterozygosity such as Alus or single nucleotide polymorphisms (SNPs), and care must be taken to have prior knowledge of how polymorphic markers in a given data set were originally identified. Otherwise, results can be skewed and interpretations faulty.

© 2001 Wayne State University Press, Detroit, Michigan 48201-1309
Elise Eller "Effects of Ascertainment Bias on Recovering Human Demographic History," Human Biology 81(5/6), 735-751, (1 December 2009). https://doi.org/10.3378/027.081.0618
Received: 18 January 1999; Published: 1 December 2009
KEYWORDS
RELATIVE POPULATION WEIGHTS
RESTRICTION FRAGMENT LENGTH POLYMORPHISMS (RFLPS)
RESTRICTION SITE POLYMORPHISMS (RSPS)
SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS)
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