Genome Med, auth.: group Reymond

Rare copy-number variants as modulators of common disease susceptibility

Chiara Auwerx 1 2 3 4Maarja Jõeloo 5 6Marie C Sadler 7 8 9Nicolò Tesio 10Sven Ojavee 7 8Charlie J Clark 10Reedik Mägi 6Estonian Biobank Research TeamAlexandre Reymond # 11Zoltán Kutalik # 12 13 14

Genome Med. 2024 Jan 8;16(1):5. doi: 10.1186/s13073-023-01265-5.


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.