Copy-number variants as modulators of common disease susceptibility
Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven E. Ojavee, Charlie J. Clark, Reedik Mägi, Alexandre Reymond, Zoltán Kutalik
This study identifies 73 CNV-related disease signals in 331,522 UK Biobank participants, showing CNVs increase disease risk and earlier onset, with polygenic effects and gene dosage impacts.
medRxiv · Jul 31, 2023 · PreprintGenetic & Genomic Medicine