Rare copy-number variants as modulators of common disease susceptibility
Chiara Auwerx 1 2 3 4, Maarja Jõeloo 5 6, Marie C Sadler 7 8 9, Nicolò Tesio 10, Sven Ojavee 7 8, Charlie J Clark 10, Reedik Mägi 6; Estonian Biobank Research Team; Alexandre Reymond # 11, Zoltán Kutalik # 12 13 14
Genome Med. 2024 Jan 8;16(1):5. doi: 10.1186/s13073-023-01265-5.
Abstract
Background: Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described.