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Versatile simulations of admixture and accurate local ancestry inference with mixnmatch and ancestryinfer

Molly Schumer, Daniel L. Powell, Russ Corbett-Detig
doi: https://doi.org/10.1101/860924
Molly Schumer
1Department of Biology, Stanford University
2Centro de Investigaciones Científicas de las Huastecas “Aguazarca”
3Hanna H. Gray Fellow, Howard Hughes Medical Institute
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  • For correspondence: schumer@stanford.edu rucorbet@ucsc.edu
Daniel L. Powell
1Department of Biology, Stanford University
2Centro de Investigaciones Científicas de las Huastecas “Aguazarca”
4Department of Biology, Texas A&M University
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Russ Corbett-Detig
5Genomics Institute, University of California, Santa Cruz
6Department of Biomolecular Engineering, University of California, Santa Cruz
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  • For correspondence: schumer@stanford.edu rucorbet@ucsc.edu
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Abstract

It is now clear that hybridization between species is much more common than previously recognized. As a result, we now know that the genomes of many modern species, including our own, are a patchwork of regions derived from past hybridization events. Increasingly researchers are interested in disentangling which regions of the genome originated from each parental species using local ancestry inference methods. Due to the diverse effects of admixture, this interest is shared across disparate fields, from human genetics to research in ecology and evolutionary biology. However, local ancestry inference methods are sensitive to a range of biological and technical parameters which can impact accuracy. Here we present paired simulation and ancestry inference pipelines, mixnmatch and ancestryinfer, to help researchers plan and execute local ancestry inference studies. mixnmatch can simulate arbitrarily complex demographic histories in the parental and hybrid populations, selection on hybrids, and technical variables such as coverage and contamination. ancestryinfer takes as input sequencing reads from simulated or real individuals, and implements an efficient local ancestry inference pipeline. We perform a series of simulations with mixnmatch to pinpoint factors that influence accuracy in local ancestry inference and highlight useful features of the two pipelines. Together, mixnmatch and ancestryinfer are powerful tools for predicting the performance of local ancestry inference methods on real data.

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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 4.0 International license.
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Posted November 30, 2019.
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Versatile simulations of admixture and accurate local ancestry inference with mixnmatch and ancestryinfer
Molly Schumer, Daniel L. Powell, Russ Corbett-Detig
bioRxiv 860924; doi: https://doi.org/10.1101/860924
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Versatile simulations of admixture and accurate local ancestry inference with mixnmatch and ancestryinfer
Molly Schumer, Daniel L. Powell, Russ Corbett-Detig
bioRxiv 860924; doi: https://doi.org/10.1101/860924

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