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

被引：3

作者：

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

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

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

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

机构：

[1] Center for Reproductive Medicine,Department of Obstetrics and Gynecology,Peking University Third Hospital

[2] Key Laboratory of Assisted Reproduction,Ministry of Education

[3] Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction

[4] Beijing Advanced Innovation Center for Genomics (ICG),Peking University

[5] Peking-Tsinghua Center for Life Sciences,Peking University

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;

D O I：

暂无

中图分类号：

R440 [];

学科分类号：

100208 ;

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.

引用

页码：517 / 525

页数：9

共 50 条

[1] The present and future of whole-exome sequencing in studying and treating human reproductive disorders
Guo, Wei
Zhu, Xiaohui
Yan, Liying
Qiao, Jie
[J]. JOURNAL OF GENETICS AND GENOMICS, 2018, 45 (10) : 517 - 525
[2] Whole-Exome Sequencing in a Movement Disorders Clinic
Shah, C.
Robak, L.
Hill, E.
Jankovic, J.
[J]. MOVEMENT DISORDERS, 2021, 36 : S94 - S94
[3] Rare genetic disorders: Beyond whole-exome sequencing
Umair, Muhammad
[J]. JOURNAL OF GENE MEDICINE, 2023, 25 (10):
[4] Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Yaping
Muzny, Donna M.
Reid, Jeffrey G.
Bainbridge, Matthew N.
Willis, Alecia
Ward, Patricia A.
Braxton, Alicia
Beuten, Joke
Xia, Fan
Niu, Zhiyv
Hardison, Matthew
Person, Richard
Bekheirnia, Mir Reza
Leduc, Magalie S.
Kirby, Amelia
Peter Pham
Scull, Jennifer
Wang, Min
Ding, Yan
Plon, Sharon E.
Lupski, James R.
Beaudet, Arthur L.
Gibbs, Richard A.
Eng, Christine M.
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (16): : 1502 - 1511
[5] WHOLE-EXOME SEQUENCING EFFECTIVE AT DIAGNOSING ELUSIVE GENETIC DISORDERS
Levenson, Deborah
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (02) : VII - VIII
[6] Whole-Exome Sequencing: Discovering Genetic Causes of Orthopaedic Disorders
Paria, Nandina
Copley, Lawson A.
Herring, John A.
Kim, Harry K. W.
Richards, Benjamin S.
Sucato, Daniel J.
Wise, Carol A.
Rios, Jonathan J.
[J]. JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2013, 95A (23): : 2165 - 2165
[7] Clinical whole-exome sequencing for the diagnosis of Mendelian neuromuscular disorders
Krenn, M.
Rath, J.
Zulehner, G.
Wagner, M.
Strom, T-M.
Stoegmann, E.
Zimprich, F.
[J]. EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 549 - 549
[8] Whole-exome sequencing in HHT patients
Giraud, S.
Lesca, G.
Auboiroux, C.
Calender, A.
Bailly, S.
Dupuis-Girod, S.
[J]. ANGIOGENESIS, 2018, 21 (01) : 149 - 149
[9] Whole-Exome Sequencing Study of Trichotillomania
Olfson, Emily
Bloch, Michael
Fernandez, Thomas
[J]. BIOLOGICAL PSYCHIATRY, 2019, 85 (10) : S223 - S223
[10] APPLICATION OF WHOLE-EXOME SEQUENCING TECHNOLOGY IN DIAGNOSIS OF INHERITED PLATELET DISORDERS
Bai, Xia
Shen, Hongjie
Xie, Jundan
Jiang, Miao
Ruan, Changgeng
[J]. INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2019, 41 : 21 - 21

← 1 2 3 4 5 →