Genetic & Genomic MedicinemedRxivPreprint
Copy-number variants as modulators of common disease susceptibility
Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler…·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.
3 citations