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Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models

Genomic selection uses whole-genome marker models to predict phenotypes or genetic values for complex traits. Some of these models fit interaction terms between markers, and are therefore called epistatic. The biological interpretation of the corresponding fitted effects is not straightforward and t...

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Autores principales: Schrauf, Matías F., Martini, Johannes W. R., Simianer, Henner, de los Campos, Gustavo, Cantet, Rodolfo, Freudenthal, Jan, Korte, Arthur, Munilla, Sebastián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466977/
https://www.ncbi.nlm.nih.gov/pubmed/32709618
http://dx.doi.org/10.1534/g3.120.401300
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author Schrauf, Matías F.
Martini, Johannes W. R.
Simianer, Henner
de los Campos, Gustavo
Cantet, Rodolfo
Freudenthal, Jan
Korte, Arthur
Munilla, Sebastián
author_facet Schrauf, Matías F.
Martini, Johannes W. R.
Simianer, Henner
de los Campos, Gustavo
Cantet, Rodolfo
Freudenthal, Jan
Korte, Arthur
Munilla, Sebastián
author_sort Schrauf, Matías F.
collection PubMed
description Genomic selection uses whole-genome marker models to predict phenotypes or genetic values for complex traits. Some of these models fit interaction terms between markers, and are therefore called epistatic. The biological interpretation of the corresponding fitted effects is not straightforward and there is the threat of overinterpreting their functional meaning. Here we show that the predictive ability of epistatic models relative to additive models can change with the density of the marker panel. In more detail, we show that for publicly available Arabidopsis and rice datasets, an initial superiority of epistatic models over additive models, which can be observed at a lower marker density, vanishes when the number of markers increases. We relate these observations to earlier results reported in the context of association studies which showed that detecting statistical epistatic effects may not only be related to interactions in the underlying genetic architecture, but also to incomplete linkage disequilibrium at low marker density (“Phantom Epistasis”). Finally, we illustrate in a simulation study that due to phantom epistasis, epistatic models may also predict the genetic value of an underlying purely additive genetic architecture better than additive models, when the marker density is low. Our observations can encourage the use of genomic epistatic models with low density panels, and discourage their biological over-interpretation.
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spelling pubmed-74669772020-09-14 Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models Schrauf, Matías F. Martini, Johannes W. R. Simianer, Henner de los Campos, Gustavo Cantet, Rodolfo Freudenthal, Jan Korte, Arthur Munilla, Sebastián G3 (Bethesda) Genomic Prediction Genomic selection uses whole-genome marker models to predict phenotypes or genetic values for complex traits. Some of these models fit interaction terms between markers, and are therefore called epistatic. The biological interpretation of the corresponding fitted effects is not straightforward and there is the threat of overinterpreting their functional meaning. Here we show that the predictive ability of epistatic models relative to additive models can change with the density of the marker panel. In more detail, we show that for publicly available Arabidopsis and rice datasets, an initial superiority of epistatic models over additive models, which can be observed at a lower marker density, vanishes when the number of markers increases. We relate these observations to earlier results reported in the context of association studies which showed that detecting statistical epistatic effects may not only be related to interactions in the underlying genetic architecture, but also to incomplete linkage disequilibrium at low marker density (“Phantom Epistasis”). Finally, we illustrate in a simulation study that due to phantom epistasis, epistatic models may also predict the genetic value of an underlying purely additive genetic architecture better than additive models, when the marker density is low. Our observations can encourage the use of genomic epistatic models with low density panels, and discourage their biological over-interpretation. Genetics Society of America 2020-07-23 /pmc/articles/PMC7466977/ /pubmed/32709618 http://dx.doi.org/10.1534/g3.120.401300 Text en Copyright © 2020 Schrauf et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genomic Prediction
Schrauf, Matías F.
Martini, Johannes W. R.
Simianer, Henner
de los Campos, Gustavo
Cantet, Rodolfo
Freudenthal, Jan
Korte, Arthur
Munilla, Sebastián
Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models
title Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models
title_full Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models
title_fullStr Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models
title_full_unstemmed Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models
title_short Phantom Epistasis in Genomic Selection: On the Predictive Ability of Epistatic Models
title_sort phantom epistasis in genomic selection: on the predictive ability of epistatic models
topic Genomic Prediction
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7466977/
https://www.ncbi.nlm.nih.gov/pubmed/32709618
http://dx.doi.org/10.1534/g3.120.401300
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