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Licensed Unlicensed Requires Authentication Published by De Gruyter February 15, 2020

A Bayesian Framework for Robust Quantitative Trait Locus Mapping and Outlier Detection

  • Crispin M. Mutshinda ORCID logo EMAIL logo , Andrew J. Irwin and Mikko J. Sillanpää


We introduce a Bayesian framework for simultaneous feature selection and outlier detection in sparse high-dimensional regression models, with a focus on quantitative trait locus (QTL) mapping in experimental crosses. More specifically, we incorporate the robust mean shift outlier handling mechanism into the multiple QTL mapping regression model and apply LASSO regularization concurrently to the genetic effects and the mean-shift terms through the flexible extended Bayesian LASSO (EBL) prior structure, thereby combining QTL mapping and outlier detection into a single sparse model representation problem. The EBL priors on the mean-shift terms prevent outlying phenotypic values from distorting the genotype-phenotype association and allow their detection as cases with outstanding mean shift values following the LASSO shrinkage. Simulation results demonstrate the effectiveness of our new methodology at mapping QTLs in the presence of outlying phenotypic values and simultaneously identifying the potential outliers, while maintaining a comparable performance to the standard EBL on outlier-free data.

Code and data availability

The R and Stan code used in the analyses as well as the simulated marker data are available in the online Supplementary Material.


CMM and AJI were supported by the Simons Collaboration on Computational Biogeochemical Modeling of Marine Ecosystems/CBIOMES (Grant ID: 549935, AJI).


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Supplementary Material

The online version of this article offers supplementary material (

Received: 2019-04-09
Revised: 2020-01-20
Accepted: 2020-02-04
Published Online: 2020-02-15

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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