What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?

The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently...

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Autor principal: Erdmann, Jeanette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818908/
https://www.ncbi.nlm.nih.gov/pubmed/33478553
http://dx.doi.org/10.1186/s13023-021-01684-w
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author Erdmann, Jeanette
author_facet Erdmann, Jeanette
author_sort Erdmann, Jeanette
collection PubMed
description The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications.
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spelling pubmed-78189082021-01-22 What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases? Erdmann, Jeanette Orphanet J Rare Dis Letter to the Editor The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications. BioMed Central 2021-01-21 /pmc/articles/PMC7818908/ /pubmed/33478553 http://dx.doi.org/10.1186/s13023-021-01684-w Text en © The Author(s) 2021 Open AccessThis 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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Letter to the Editor
Erdmann, Jeanette
What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
title What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
title_full What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
title_fullStr What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
title_full_unstemmed What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
title_short What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
title_sort what can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818908/
https://www.ncbi.nlm.nih.gov/pubmed/33478553
http://dx.doi.org/10.1186/s13023-021-01684-w
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