While most of the human genome is the same across individuals, genomic mishaps such as deletions and duplications can reduce or increase the number of copies of specific genetic fragments. These mishaps are also known as copy-number variations or CNVs. A new study based on a large cohort of 500,000 healthy volunteers in the UK and led by the teams of SIB Group Leader Zoltán Kutalik and Alexandre Reymond from the University of Lausanne, reveals that such variations are much more common than previously thought across the population. The study also explored their influence on our physical traits and predisposition to diseases. The study is published today in the American Journal of Human Genetics.
Auwerx C et al. The individual and global impact of copy-number variants on complex human traits. The American Journal of Human Genetics, 2022.