作者
Zirui Dong, Junhao Yan, Fengping Xu, Jianying Yuan, Hui Jiang, Huilin Wang, Haixiao Chen, Lei Zhang, Lingfei Ye, Jinjin Xu, Yuhua Shi, Zhenjun Yang, Ye Cao, Lingyun Chen, Qiaoling Li, Xia Zhao, Jiguang Li, Ao Chen, Wenwei Zhang, Hoi Gin Wong, Yingying Qin, Han Zhao, Yuan Chen, Pei Li, Tao Ma, Wen-Jing Wang, Yvonne K Kwok, Yuan Jiang, Amber N Pursley, Jacqueline PW Chung, Yan Hong, Karsten Kristiansen, Huanming Yang, Raul E Piña-Aguilar, Tak Yeung Leung, Sau Wai Cheung, Cynthia C Morton, Kwong Wai Choy, Zi-Jiang Chen
发表日期
2019/12/5
期刊
The American Journal of Human Genetics
卷号
105
期号
6
页码范围
1102-1111
出版商
Elsevier
简介
Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic tool to define the contribution of chromosomal abnormalities in human diseases. In this study we evaluated its utility in RM-affected couples. We performed low-pass GS retrospectively for 1,090 RM-affected couples, all of whom had routine chromosome analysis. A customized sequencing and interpretation pipeline was developed to identify chromosomal rearrangements and deletions/duplications with confirmation by fluorescence in situ hybridization, chromosomal microarray analysis, and PCR studies. Low-pass GS yielded results in 1,077 of 1,090 couples (98.8%) and detected 127 chromosomal abnormalities in 11.7% (126/1,077) of couples; both members of one couple were identified with inversions. Of the 126 couples, 39.7% (50 …
引用总数
201920202021202220232024182319228
学术搜索中的文章
Z Dong, J Yan, F Xu, J Yuan, H Jiang, H Wang, H Chen… - The American Journal of Human Genetics, 2019