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Population size in QTL detection using quantile regression in genome-wide association studies

The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simulated data...

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Autores principales: Oliveira, Gabriela França, Nascimento, Ana Carolina Campana, Azevedo, Camila Ferreira, de Oliveira Celeri, Maurício, Barroso, Laís Mayara Azevedo, de Castro Sant’Anna, Isabela, Viana, José Marcelo Soriano, de Resende, Marcos Deon Vilela, Nascimento, Moysés
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264463/
https://www.ncbi.nlm.nih.gov/pubmed/37311810
http://dx.doi.org/10.1038/s41598-023-36730-z
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author Oliveira, Gabriela França
Nascimento, Ana Carolina Campana
Azevedo, Camila Ferreira
de Oliveira Celeri, Maurício
Barroso, Laís Mayara Azevedo
de Castro Sant’Anna, Isabela
Viana, José Marcelo Soriano
de Resende, Marcos Deon Vilela
Nascimento, Moysés
author_facet Oliveira, Gabriela França
Nascimento, Ana Carolina Campana
Azevedo, Camila Ferreira
de Oliveira Celeri, Maurício
Barroso, Laís Mayara Azevedo
de Castro Sant’Anna, Isabela
Viana, José Marcelo Soriano
de Resende, Marcos Deon Vilela
Nascimento, Moysés
author_sort Oliveira, Gabriela França
collection PubMed
description The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simulated data was used, with traits of different levels of heritability (0.30 and 0.50), and controlled by 3 and 100 QTLs. Populations of 1,000 to 200 individuals were defined, with a random reduction of 100 individuals for each population. The power of detection of QTLs and the false positive rate were obtained by means of QR considering three different quantiles (0.10, 0.50 and 0.90) and also by means of the General Linear Model (GLM). In general, it was observed that the QR models showed greater power of detection of QTLs in all scenarios evaluated and a relatively low false positive rate in scenarios with a greater number of individuals. The models with the highest detection power of true QTLs at the extreme quantils (0.10 and 0.90) were the ones with the highest detection power of true QTLs. In contrast, the analysis based on the GLM detected few (scenarios with larger population size) or no QTLs in the evaluated scenarios. In the scenarios with low heritability, QR obtained a high detection power. Thus, it was verified that the use of QR in GWAS is effective, allowing the detection of QTLs associated with traits of interest even in scenarios with few genotyped and phenotyped individuals.
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spelling pubmed-102644632023-06-15 Population size in QTL detection using quantile regression in genome-wide association studies Oliveira, Gabriela França Nascimento, Ana Carolina Campana Azevedo, Camila Ferreira de Oliveira Celeri, Maurício Barroso, Laís Mayara Azevedo de Castro Sant’Anna, Isabela Viana, José Marcelo Soriano de Resende, Marcos Deon Vilela Nascimento, Moysés Sci Rep Article The aim of this study was to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) regarding the ability to detect QTLs (Quantitative Trait Locus) associated with phenotypic traits of interest, considering different population sizes. For this, simulated data was used, with traits of different levels of heritability (0.30 and 0.50), and controlled by 3 and 100 QTLs. Populations of 1,000 to 200 individuals were defined, with a random reduction of 100 individuals for each population. The power of detection of QTLs and the false positive rate were obtained by means of QR considering three different quantiles (0.10, 0.50 and 0.90) and also by means of the General Linear Model (GLM). In general, it was observed that the QR models showed greater power of detection of QTLs in all scenarios evaluated and a relatively low false positive rate in scenarios with a greater number of individuals. The models with the highest detection power of true QTLs at the extreme quantils (0.10 and 0.90) were the ones with the highest detection power of true QTLs. In contrast, the analysis based on the GLM detected few (scenarios with larger population size) or no QTLs in the evaluated scenarios. In the scenarios with low heritability, QR obtained a high detection power. Thus, it was verified that the use of QR in GWAS is effective, allowing the detection of QTLs associated with traits of interest even in scenarios with few genotyped and phenotyped individuals. Nature Publishing Group UK 2023-06-13 /pmc/articles/PMC10264463/ /pubmed/37311810 http://dx.doi.org/10.1038/s41598-023-36730-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Oliveira, Gabriela França
Nascimento, Ana Carolina Campana
Azevedo, Camila Ferreira
de Oliveira Celeri, Maurício
Barroso, Laís Mayara Azevedo
de Castro Sant’Anna, Isabela
Viana, José Marcelo Soriano
de Resende, Marcos Deon Vilela
Nascimento, Moysés
Population size in QTL detection using quantile regression in genome-wide association studies
title Population size in QTL detection using quantile regression in genome-wide association studies
title_full Population size in QTL detection using quantile regression in genome-wide association studies
title_fullStr Population size in QTL detection using quantile regression in genome-wide association studies
title_full_unstemmed Population size in QTL detection using quantile regression in genome-wide association studies
title_short Population size in QTL detection using quantile regression in genome-wide association studies
title_sort population size in qtl detection using quantile regression in genome-wide association studies
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264463/
https://www.ncbi.nlm.nih.gov/pubmed/37311810
http://dx.doi.org/10.1038/s41598-023-36730-z
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