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...

Full description

Saved in:
Bibliographic Details
Main Authors: M. T. Oetjens, M. A. Kelly, A. C. Sturm, C. L. Martin, D. H. Ledbetter
Format: article
Language:EN
Published: Nature Portfolio 2019
Subjects:
Q
Online Access:https://doaj.org/article/96dda06cd3764488a3d966497943e622
Tags: Add Tag
No Tags, Be the first to tag this record!