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Test-statistic inflation in methylome-wide association studies

Recent years have seen a surge of methylome-wide association studies (MWAS). We observed that many of these studies suffer from test statistic inflation that is most likely caused by commonly used quality control (QC) pipelines not going far enough to remove technical artefacts. To support this clai...

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Autores principales: Guintivano, Jerry, Shabalin, Andrey A, Chan, Robin F., Rubinow, David R., Sullivan, Patrick F., Meltzer-Brody, Samantha, Aberg, Karolina a, van den Oord, Edwin J. C. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7595582/
https://www.ncbi.nlm.nih.gov/pubmed/32425094
http://dx.doi.org/10.1080/15592294.2020.1758382
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author Guintivano, Jerry
Shabalin, Andrey A
Chan, Robin F.
Rubinow, David R.
Sullivan, Patrick F.
Meltzer-Brody, Samantha
Aberg, Karolina a
van den Oord, Edwin J. C. G.
author_facet Guintivano, Jerry
Shabalin, Andrey A
Chan, Robin F.
Rubinow, David R.
Sullivan, Patrick F.
Meltzer-Brody, Samantha
Aberg, Karolina a
van den Oord, Edwin J. C. G.
author_sort Guintivano, Jerry
collection PubMed
description Recent years have seen a surge of methylome-wide association studies (MWAS). We observed that many of these studies suffer from test statistic inflation that is most likely caused by commonly used quality control (QC) pipelines not going far enough to remove technical artefacts. To support this claim, we reanalysed GEO datasets with an improved QC pipeline that reduced test-statistic inflation parameter lambda from the original mean/median of 20.16/15.17 to 3.07/1.14. Furthermore, the mean/median number of methylome-wide significant findings was reduced by 65,688/57,805 loci after more thorough QC. To avoid such false positives we argue for more extensive QC and that reporting the test-statistic inflation parameter lambda become standard for all MWAS allowing readers to better assess the risk of false discoveries.
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spelling pubmed-75955822020-11-10 Test-statistic inflation in methylome-wide association studies Guintivano, Jerry Shabalin, Andrey A Chan, Robin F. Rubinow, David R. Sullivan, Patrick F. Meltzer-Brody, Samantha Aberg, Karolina a van den Oord, Edwin J. C. G. Epigenetics Brief Report Recent years have seen a surge of methylome-wide association studies (MWAS). We observed that many of these studies suffer from test statistic inflation that is most likely caused by commonly used quality control (QC) pipelines not going far enough to remove technical artefacts. To support this claim, we reanalysed GEO datasets with an improved QC pipeline that reduced test-statistic inflation parameter lambda from the original mean/median of 20.16/15.17 to 3.07/1.14. Furthermore, the mean/median number of methylome-wide significant findings was reduced by 65,688/57,805 loci after more thorough QC. To avoid such false positives we argue for more extensive QC and that reporting the test-statistic inflation parameter lambda become standard for all MWAS allowing readers to better assess the risk of false discoveries. Taylor & Francis 2020-05-19 /pmc/articles/PMC7595582/ /pubmed/32425094 http://dx.doi.org/10.1080/15592294.2020.1758382 Text en © 2020 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.
spellingShingle Brief Report
Guintivano, Jerry
Shabalin, Andrey A
Chan, Robin F.
Rubinow, David R.
Sullivan, Patrick F.
Meltzer-Brody, Samantha
Aberg, Karolina a
van den Oord, Edwin J. C. G.
Test-statistic inflation in methylome-wide association studies
title Test-statistic inflation in methylome-wide association studies
title_full Test-statistic inflation in methylome-wide association studies
title_fullStr Test-statistic inflation in methylome-wide association studies
title_full_unstemmed Test-statistic inflation in methylome-wide association studies
title_short Test-statistic inflation in methylome-wide association studies
title_sort test-statistic inflation in methylome-wide association studies
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7595582/
https://www.ncbi.nlm.nih.gov/pubmed/32425094
http://dx.doi.org/10.1080/15592294.2020.1758382
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