Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

Qun LiLin ZhaoYang ZengYanping KuangYichun GuanBiaobang ChenShiru XuBin TangLing WuXiaoyan MaoXiaoxi SunJuanzi ShiPeng XuFeiyang DiaoSongguo XueShihua BaoQingxia MengPing YuanWenjun WangNing MaDi SongBei XuJie DongJian MuZhihua ZhangHuizhen FanHao GuQiaoli LiLin HeLi JinLei WangQing Sang

Published in: Genome biology (2023)

Our findings suggest novel genetic insights that DNMs contribute to female infertility with oocyte and embryo defects. This study also provides potential genetic markers and facilitates the genetic diagnosis of recurrent ART failure and female infertility.

Keyphrases

genome wide
copy number
polycystic ovary syndrome
type diabetes
gene expression
transcription factor
pregnant women
risk assessment
climate change
antiretroviral therapy
skeletal muscle
genome wide identification