Δευτέρα 22 Οκτωβρίου 2018

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

Publication date: Available online 22 October 2018

Source: Journal of Genetics and Genomics

Author(s): Wei Guo, Xiaohui Zhu, Liying Yan, Jie Qiao

Abstract

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.



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