GeneticsNature GeneticsPeer-reviewed
Modified penetrance of coding variants by cis-regulatory variation shapes human traits
Stephane E. Castel, Alejandra Cervera, Pejman Mohammadi…·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.
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