Publications:

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: DMD: 7898G>A; Trp2633Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.

Molecular Genetics & Genomic Medicine

Zhang, Yan Y; Yang, Weikang W; Wen, Guoming G; Wu, Yanxia Y; Jing, Zhiliang Z; Li, Dazhou D; Tang, Minshan M; Liu, Guanglong G; Wei, Xuxuan X; Zhong, Yan Y; Li, Yanhua Y; Deng, Yongjian Y

Publication Date: 2019-05

Variant appearance in text: DMD: 7898G>A; Trp2633*

PubMed Link: 30938079

Variant Present in the following documents:

• Main text
• MGG3-7-e622.pdf

View BVdb publication page