Rare copy-number variants as modulators of common disease susceptibility.
Chiara AuwerxMaarja LepametsMarie C SadlerNicolò TesioSven E OjaveeCharlie J ClarkReedik Mäginull nullAlexandre ReymondZoltán KutalikPublished in: Genome medicine (2024)
Our results shed light on the prominent role of rare CNVs in determining common disease susceptibility within the general population and provide actionable insights for anticipating later-onset comorbidities in carriers of recurrent CNVs.