Rare variant analyses provide insights into the genetic architecture of endometriosis.

Abstract excerpt

BACKGROUND: Endometriosis (EMs) is a prevalent gynecologic disorder that often causes severe chronic pelvic pain and infertility. Although genome-wide association studies have identified common variants of EMs, the contribution of rare variants remains unclear. RESULTS: We conducted an exome-wide analysis in 87,100 unrelated female participants of European ancestry from the UK Biobank. Single variant association...

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