Abstract

BackgroundRecent 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.ResultsWe 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.ConclusionThe 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.

Highlights

  • Recent advancements in sequencing and computational technologies have led to rapid generation and analysis of high quality genetic data

  • We found that the parameter set that led to the highest mean allele frequency value included a low native population size, high migrant population size, and low mutation rate and was unchanged by the time since the migration event

  • The ability to detect historic admixture and make correct inferences based on genetic data depends on the interplay between population sizes, mutation rates, time, and other parameters

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Summary

Introduction

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. 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. In the past 20 years, DNA sequence data and advanced computational techniques have provided an unparalleled resource in the study of human origins[1] and migration[2] These tools have demonstrated a Pleistocene colonization of America by Asian populations[3,4] and have even prompted calculations of the size of the original human founding populations[5]. It should be noted that genetic data have been used to study the large Norse migration to Ireland[18], but are an afterthought when researching their short-lived occupation of Canada[19,20]

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