Whole genome sequencing instead of whole exome sequencing is required to identify the genetic causes of polycystic ovary syndrome in Pakistani families

ABSTRACT

Background and Objective: Polycystic Ovary Syndrome [PCOS] is the major cause of infertility in females. PCOS is a complex and multifactorial disease, genetic and environmental factors being important predisposing factors. Diagnosis of PCOS is difficult due to the complexity of this disease; hence, better diagnostic tests are required to improve its management. Aim of the study was to elucidate the genetic causes of PCOS in three Pakistani families