Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits
Rosemary Bauer, Chloe Parker, Zulma Cardona, M. Geoffrey Hayes, Allen R. Kunselman, Richard S. Legro, Corrine Kolka Welt, Margrit Urbanek
This study identifies pathogenic variants in insulin resistance genes in PCOS patients using whole-exome sequencing, highlighting IR as a central pathway in PCOS.
medRxiv · Aug 13, 2025 · PreprintGenetic & Genomic Medicine