Abstract
Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion of the heritability can be accounted for by common genetic risk variants identified to date. It is possible that variants with lower allele frequencies that cannot be detected using genome-wide association study arrays contribute to PCOS. Here, we discuss the challenges inherent to studying rare genetic variants in complex disease and review several recent studies that have used DNA sequencing techniques to investigate whether rare variants play a role in PCOS pathogenesis. We evaluate these findings in the context of the latest literature in PCOS and complex disease genetics.