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Joint modelling of confounding factors and prominent genetic regulators provides increased accuracy in genetical genomics studies.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Fusi, Nicoló 
Stegle, Oliver 
Lawrence, Neil David  ORCID logo  https://orcid.org/0000-0001-9258-1030

Abstract

Expression quantitative trait loci (eQTL) studies are an integral tool to investigate the genetic component of gene expression variation. A major challenge in the analysis of such studies are hidden confounding factors, such as unobserved covariates or unknown subtle environmental perturbations. These factors can induce a pronounced artifactual correlation structure in the expression profiles, which may create spurious false associations or mask real genetic association signals. Here, we report PANAMA (Probabilistic ANAlysis of genoMic dAta), a novel probabilistic model to account for confounding factors within an eQTL analysis. In contrast to previous methods, PANAMA learns hidden factors jointly with the effect of prominent genetic regulators. As a result, this new model can more accurately distinguish true genetic association signals from confounding variation. We applied our model and compared it to existing methods on different datasets and biological systems. PANAMA consistently performs better than alternative methods, and finds in particular substantially more trans regulators. Importantly, our approach not only identifies a greater number of associations, but also yields hits that are biologically more plausible and can be better reproduced between independent studies. A software implementation of PANAMA is freely available online at http://ml.sheffield.ac.uk/qtl/.

Description

Keywords

Algorithms, Animals, Chromosome Mapping, Computer Simulation, Confounding Factors, Epidemiologic, Data Interpretation, Statistical, Gene Expression Regulation, Genetic Variation, Humans, Models, Genetic, Models, Statistical, Quantitative Trait Loci, Sensitivity and Specificity

Journal Title

PLoS Comput Biol

Conference Name

Journal ISSN

1553-734X
1553-7358

Volume Title

8

Publisher

Public Library of Science (PLoS)