Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Xiaoming Wei; Yi Dai; Ping Yu; Ning Qu; Zhangzhang Lan; Xiafei Hong; Yan Sun; Guanghui Yang; Shuqi Xie; Quan Shi; Hanlin Zhou; Qian Zhu; Yuxing Chu; Fengxia Yao; Jinming Wang; Jingni He; Yun Yang; Yu Liang; Yi Yang; Ming Qi; Ling Yang; Wei Wang; Haitao Wu; Jing Duan; Cheng Shen; Jun Wang; Liying Cui; Xin Yi

doi:10.1038/ejhg.2013.82

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Xiaoming Wei, Yi Dai, Ping Yu, Ning Qu, Zhangzhang Lan, Xiafei Hong, Yan Sun, Guanghui Yang, Shuqi Xie, Quan Shi, Hanlin Zhou, Qian Zhu, Yuxing Chu, Fengxia Yao, Jinming Wang, Jingni He, Yun Yang, Yu Liang, Yi Yang, Ming QiLing Yang, Wei Wang, Haitao Wu, Jing Duan, Cheng Shen, Jun Wang, Liying Cui, Xin Yi

Genome Research and Molecular Bio Medicine

47 Citations (Scopus)

Original language	English
Journal	European Journal of Human Genetics
Volume	22
Pages (from-to)	110-118
Number of pages	9
ISSN	1018-4813
DOIs	https://doi.org/10.1038/ejhg.2013.82
Publication status	Published - Jan 2014

Keywords

targeted NGS
genetic diagnosis
Duchenne and Becker muscular dystrophies
statistical analysis for CNVs
breakpoints

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10.1038/ejhg.2013.82

Cite this

Wei, X., Dai, Y., Yu, P., Qu, N., Lan, Z., Hong, X., Sun, Y., Yang, G., Xie, S., Shi, Q., Zhou, H., Zhu, Q., Chu, Y., Yao, F., Wang, J., He, J., Yang, Y., Liang, Y., Yang, Y., ... Yi, X. (2014). Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study. European Journal of Human Genetics, 22, 110-118. https://doi.org/10.1038/ejhg.2013.82

Wei, X, Dai, Y, Yu, P, Qu, N, Lan, Z, Hong, X, Sun, Y, Yang, G, Xie, S, Shi, Q, Zhou, H, Zhu, Q, Chu, Y, Yao, F, Wang, J, He, J, Yang, Y, Liang, Y, Yang, Y, Qi, M, Yang, L, Wang, W, Wu, H, Duan, J, Shen, C, Wang, J, Cui, L & Yi, X 2014, 'Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study', European Journal of Human Genetics, vol. 22, pp. 110-118. https://doi.org/10.1038/ejhg.2013.82

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title = "Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study",

keywords = "targeted NGS, genetic diagnosis, Duchenne and Becker muscular dystrophies, statistical analysis for CNVs, breakpoints",

author = "Xiaoming Wei and Yi Dai and Ping Yu and Ning Qu and Zhangzhang Lan and Xiafei Hong and Yan Sun and Guanghui Yang and Shuqi Xie and Quan Shi and Hanlin Zhou and Qian Zhu and Yuxing Chu and Fengxia Yao and Jinming Wang and Jingni He and Yun Yang and Yu Liang and Yi Yang and Ming Qi and Ling Yang and Wei Wang and Haitao Wu and Jing Duan and Cheng Shen and Jun Wang and Liying Cui and Xin Yi",

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doi = "10.1038/ejhg.2013.82",

language = "English",

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T1 - Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD

T2 - a multi-population diagnostic study

AU - Wei, Xiaoming

AU - Dai, Yi

AU - Yu, Ping

AU - Qu, Ning

AU - Lan, Zhangzhang

AU - Hong, Xiafei

AU - Sun, Yan

AU - Yang, Guanghui

AU - Xie, Shuqi

AU - Shi, Quan

AU - Zhou, Hanlin

AU - Zhu, Qian

AU - Chu, Yuxing

AU - Yao, Fengxia

AU - Wang, Jinming

AU - He, Jingni

AU - Yang, Yun

AU - Liang, Yu

AU - Yang, Yi

AU - Qi, Ming

AU - Yang, Ling

AU - Wang, Wei

AU - Wu, Haitao

AU - Duan, Jing

AU - Shen, Cheng

AU - Wang, Jun

AU - Cui, Liying

AU - Yi, Xin

PY - 2014/1

Y1 - 2014/1

KW - targeted NGS

KW - genetic diagnosis

KW - Duchenne and Becker muscular dystrophies

KW - statistical analysis for CNVs

KW - breakpoints

U2 - 10.1038/ejhg.2013.82

DO - 10.1038/ejhg.2013.82

M3 - Journal article

C2 - 23756440

SN - 1018-4813

VL - 22

SP - 110

EP - 118

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Keywords

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