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Priors for Genotyping Polyploids

View ORCID ProfileDavid Gerard, View ORCID ProfileLuís Felipe Ventorim Ferrão
doi: https://doi.org/10.1101/751784
David Gerard
1Department of Mathematics and Statistics, American University, Washington, DC, 20016, USA
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Luís Felipe Ventorim Ferrão
2Horticultural Sciences Department, University of Florida, Gainesville, FL, 32611, USA
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Abstract

Motivation Empirical Bayes techniques to genotype polyploid organisms usually either (i) assume technical artifacts are known a priori or (ii) estimate technical artifacts simultaneously with the prior genotype distribution. Case (i) is unappealing as it places the onus on the researcher to estimate these artifacts, or to ensure that there are no systematic biases in the data. However, as we demonstrate with a few empirical examples, case (ii) makes choosing the class of prior genotype distributions extremely important. Choosing a class that is either too flexible or too restrictive results in poor genotyping performance.

Results We propose two classes of prior genotype distributions that are of intermediate levels of flexibility: the class of proportional normal distributions and the class of unimodal distributions. We provide a complete characterization of and optimization details for the class of unimodal distributions. We demonstrate, using both simulated and real data, that using these classes results in superior genotyping performance.

Availability and Implementation Genotyping methods that use these priors are implemented in the updog R package available on the Comprehensive R Archive Network: https://cran.r-project.org/package=updog. All code needed to reproduce the results of this paper is available on GitHub: https://github.com/dcgerard/reproduce_prior_sims.

Contact dgerard{at}american.edu

Footnotes

  • https://github.com/dcgerard/reproduce_prior_sims

  • https://cran.r-project.org/package=updog

Copyright 
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 August 31, 2019.
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Priors for Genotyping Polyploids
David Gerard, Luís Felipe Ventorim Ferrão
bioRxiv 751784; doi: https://doi.org/10.1101/751784
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Priors for Genotyping Polyploids
David Gerard, Luís Felipe Ventorim Ferrão
bioRxiv 751784; doi: https://doi.org/10.1101/751784

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