Article
Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.
Nature communications - 5 Jun 2025
Wei Angela, Border Richard, Fu Boyang, Cullina Sinéad, Brandes Nadav, Jang Seon-Kyeong, Sankararaman Sriram, Kenny Eimear E, Udler Miriam S, Ntranos Vasilis, Zaitlen Noah, Arboleda Valerie A
Abstract excerpt
Over three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant effect sizes, carrier polygenic backgrounds, and modulation of carrier effect by genetic background (marginal epistasis). We...
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