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Towards an evolutionarily appropriate null model: jointly inferring demography and purifying selection

Parul Johri, Brian Charlesworth, Jeffrey D. Jensen
doi: https://doi.org/10.1101/2019.12.18.881516
Parul Johri
*School of Life Sciences, Arizona State University, Tempe, Arizona, USA
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  • For correspondence: pjohri1@asu.edu Jeffrey.D.Jensen@asu.edu
Brian Charlesworth
†Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, United Kingdom
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Jeffrey D. Jensen
*School of Life Sciences, Arizona State University, Tempe, Arizona, USA
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  • For correspondence: pjohri1@asu.edu Jeffrey.D.Jensen@asu.edu
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ABSTRACT

The question of the relative evolutionary roles of adaptive and non-adaptive processes has been a central debate in population genetics for nearly a century. While advances have been made in the theoretical development of the underlying models, and statistical methods for estimating their parameters from large-scale genomic data, a framework for an appropriate null model remains elusive. A model incorporating evolutionary processes known to be in constant operation - genetic drift (as modulated by the demographic history of the population) and purifying selection – is lacking. Without such a null model, the role of adaptive processes in shaping within- and between-population variation may not be accurately assessed. Here, we investigate how population size changes and the strength of purifying selection affect patterns of variation at neutral sites near functional genomic components. We propose a novel statistical framework for jointly inferring the contribution of the relevant selective and demographic parameters. By means of extensive performance analyses, we quantify the utility of the approach, identify the most important statistics for parameter estimation, and compare the results with existing methods. Finally, we re-analyze genome-wide population-level data from a Zambian population of Drosophila melanogaster, and find that it has experienced a much slower rate of population growth than was inferred when the effects of purifying selection were neglected. Our approach represents an appropriate null model, against which the effects of positive selection can be assessed.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted February 21, 2020.
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Towards an evolutionarily appropriate null model: jointly inferring demography and purifying selection
Parul Johri, Brian Charlesworth, Jeffrey D. Jensen
bioRxiv 2019.12.18.881516; doi: https://doi.org/10.1101/2019.12.18.881516
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Towards an evolutionarily appropriate null model: jointly inferring demography and purifying selection
Parul Johri, Brian Charlesworth, Jeffrey D. Jensen
bioRxiv 2019.12.18.881516; doi: https://doi.org/10.1101/2019.12.18.881516

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