Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in gen...

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Main Authors: M. T. Oetjens, M. A. Kelly, A. C. Sturm, C. L. Martin, D. H. Ledbetter
Format: Article
Language:English
Published: Nature Publishing Group 2019-10-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-019-12869-0
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spelling doaj-96dda06cd3764488a3d966497943e6222021-05-11T12:21:25ZengNature Publishing GroupNature Communications2041-17232019-10-0110111010.1038/s41467-019-12869-0Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersM. T. Oetjens0M. A. Kelly1A. C. Sturm2C. L. Martin3D. H. Ledbetter4Geisinger Health SystemGeisinger Health SystemGeisinger Health SystemGeisinger Health SystemGeisinger Health SystemRare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in genome-wide association studies of relevant traits.https://doi.org/10.1038/s41467-019-12869-0
collection DOAJ
language English
format Article
sources DOAJ
author M. T. Oetjens
M. A. Kelly
A. C. Sturm
C. L. Martin
D. H. Ledbetter
spellingShingle M. T. Oetjens
M. A. Kelly
A. C. Sturm
C. L. Martin
D. H. Ledbetter
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Nature Communications
author_facet M. T. Oetjens
M. A. Kelly
A. C. Sturm
C. L. Martin
D. H. Ledbetter
author_sort M. T. Oetjens
title Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_short Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_full Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_fullStr Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_full_unstemmed Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_sort quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2019-10-01
description Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in genome-wide association studies of relevant traits.
url https://doi.org/10.1038/s41467-019-12869-0
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AT acsturm quantifyingthepolygeniccontributiontovariableexpressivityinelevenraregeneticdisorders
AT clmartin quantifyingthepolygeniccontributiontovariableexpressivityinelevenraregeneticdisorders
AT dhledbetter quantifyingthepolygeniccontributiontovariableexpressivityinelevenraregeneticdisorders
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