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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Bibliographic Details
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
Description
Summary: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.
ISSN:2041-1723

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