The present and future of whole-exome sequencing in studying and treating human reproductive disorders

被引：9

作者：

Guo, Wei ^{[1
,2
,3
]}

Zhu, Xiaohui ^{[1
,2
,3
]}

Yan, Liying ^{[1
,2
,3
]}

Qiao, Jie ^{[1
,2
,3
,4
,5
]}

机构：

[1] Peking Univ, Hosp 3, Dept Obstet & Gynecol, Ctr Reprod Med, Beijing 100191, Peoples R China

[2] Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China

[3] Beijing Key Lab Reprod Endocrinol & Assisted Repr, Beijing 100191, Peoples R China

[4] Peking Univ, Beijing Adv Innovat Ctr Genom ICG, Beijing 100871, Peoples R China

[5] Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing 100871, Peoples R China

来源：

JOURNAL OF GENETICS AND GENOMICS | 2018年 / 45卷 / 10期

基金：

中国国家自然科学基金;

关键词：

Whole exome sequencing (WES); Unexplained recurrent spontaneous abortion (URSA); Fetal malformations; Human reproduction; PREIMPLANTATION GENETIC DIAGNOSIS; CONGENITAL HEART-DISEASE; CLEFT-LIP; RECURRENT MISCARRIAGE; PRENATAL-DIAGNOSIS; MENDELIAN PHENOTYPES; JOUBERT SYNDROME; MUTATIONS; FETUSES; LETHAL;

D O I：

10.1016/j.jgg.2018.08.004

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The causes of recurrent spontaneous abortion (RSA) and fetal malformations are multifactorial and unclear in most cases. Environmental, maternal, and genetic factors have been shown to contribute to these defects. Whole-exome sequencing (WES) is widely used to detect genetic variations associated with human diseases and has recently been successfully applied to unveil genetic causes of unexplained recurrent spontaneous abortion (URSA) and fetal malformations. Here, we review the current discovery and diagnosis strategies to identify the underlying pathogenic mutations of URSA and fetal malformations using WES technology and propose to further develop WES, both to advance our understanding of these diseases and to eventually lead to targeted therapies for reproductive disorders. Copyright (c) 2018, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.

引用

页码：517 / 525

页数：9

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