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Weighted multiple testing procedures in genome-wide association studies

Multiple testing procedures controlling the false discovery rate (FDR) are increasingly used in the context of genome wide association studies (GWAS), and weighted multiple testing procedures that incorporate covariate information are efficient to improve the power to detect associations. In this wo...

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Detalles Bibliográficos
Autores principales: Obry, Ludivine, Dalmasso, Cyril
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276986/
https://www.ncbi.nlm.nih.gov/pubmed/37337586
http://dx.doi.org/10.7717/peerj.15369
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author Obry, Ludivine
Dalmasso, Cyril
author_facet Obry, Ludivine
Dalmasso, Cyril
author_sort Obry, Ludivine
collection PubMed
description Multiple testing procedures controlling the false discovery rate (FDR) are increasingly used in the context of genome wide association studies (GWAS), and weighted multiple testing procedures that incorporate covariate information are efficient to improve the power to detect associations. In this work, we evaluate some recent weighted multiple testing procedures in the specific context of GWAS through a simulation study. We also present a new efficient procedure called wBHa that prioritizes the detection of genetic variants with low minor allele frequencies while maximizing the overall detection power. The results indicate good performance of our procedure compared to other weighted multiple testing procedures. In particular, in all simulated settings, wBHa tends to outperform other procedures in detecting rare variants while maintaining good overall power. The use of the different procedures is illustrated with a real dataset.
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spelling pubmed-102769862023-06-19 Weighted multiple testing procedures in genome-wide association studies Obry, Ludivine Dalmasso, Cyril PeerJ Bioinformatics Multiple testing procedures controlling the false discovery rate (FDR) are increasingly used in the context of genome wide association studies (GWAS), and weighted multiple testing procedures that incorporate covariate information are efficient to improve the power to detect associations. In this work, we evaluate some recent weighted multiple testing procedures in the specific context of GWAS through a simulation study. We also present a new efficient procedure called wBHa that prioritizes the detection of genetic variants with low minor allele frequencies while maximizing the overall detection power. The results indicate good performance of our procedure compared to other weighted multiple testing procedures. In particular, in all simulated settings, wBHa tends to outperform other procedures in detecting rare variants while maintaining good overall power. The use of the different procedures is illustrated with a real dataset. PeerJ Inc. 2023-06-15 /pmc/articles/PMC10276986/ /pubmed/37337586 http://dx.doi.org/10.7717/peerj.15369 Text en ©2023 Obry et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ) and either DOI or URL of the article must be cited.
spellingShingle Bioinformatics
Obry, Ludivine
Dalmasso, Cyril
Weighted multiple testing procedures in genome-wide association studies
title Weighted multiple testing procedures in genome-wide association studies
title_full Weighted multiple testing procedures in genome-wide association studies
title_fullStr Weighted multiple testing procedures in genome-wide association studies
title_full_unstemmed Weighted multiple testing procedures in genome-wide association studies
title_short Weighted multiple testing procedures in genome-wide association studies
title_sort weighted multiple testing procedures in genome-wide association studies
topic Bioinformatics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276986/
https://www.ncbi.nlm.nih.gov/pubmed/37337586
http://dx.doi.org/10.7717/peerj.15369
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