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Article

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

PloS one - 1 Jan 2011

Wei Xiaoming, Ju Xiangchun, Yi Xin, Zhu Qian, Qu Ning, Liu Tengfei, Chen Yang, Jiang Hui, Yang Guanghui, Zhen Ruan, Lan Zhangzhang, Qi Ming, Wang Jinming, Yang Yi, Chu Yuxing, Li Xiaoyan, Guang Yanfang, Huang Jian

Abstract excerpt

BACKGROUND: Identification of gene variants plays an important role in research on and diagnosis of genetic diseases. A combination of enrichment of targeted genes and next-generation sequencing (targeted DNA-HiSeq) results in both high efficiency and low cost for targeted sequencing of genes of interest. METHODOLOGY/PRINCIPAL FINDINGS: To identify mutations associated with genetic diseases, we designed an...

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PMID: 22216297
DOI: 10.1371/journal.pone.0029500
PMCID: PMC3244462

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DMD
FBN1
STS

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