An understudied type of genetic variants typically associated with rare and debilitating conditions have now been shown to also shape risk for more common diseases in the general population. The study, led by the teams of Alexandre Reymond and SIB Group Leader Zoltán Kutalik both at the University of Lausanne, aimed to better understand the class of genetic variants, known as copy-number variants (CNVs). These results, now published in Genome Medicine, hold promise for further developing personalized medicine.
Auwerx C et al. Rare copy-number variants as modulators of common disease susceptibility. Genome medicine 2024.