Modified penetrance of coding variants by cis-regulatory variation shapes human traits
Stephane E. Castel, Alejandra Cervera, Pejman Mohammadi, François Aguet, Ferrán Reverter, Aaron Wolman, Roderic Guigó, Ivan H. Iossifov, Ana Vasileva, Tuuli Lappalainen
The paper shows that cis-regulatory variation modifies the penetrance of coding variants, affecting disease risk in cancer and autism, and demonstrates this through experimental validation.
Nature Genetics · Aug 10, 2018Peer-reviewedGenetics