Article
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
PloS one - 1 Jan 2015
Liu Yanqiu, Wei Xiaoming, Kong Xiangdong, Guo Xueqin, Sun Yan, Man Jianfen, Du Lique, Zhu Hui, Qu Zelan, Tian Ping, Mao Bing, Yang Yun
Abstract excerpt
BACKGROUND: Targeted next-generation sequencing (NGS) is a cost-effective approach for rapid and accurate detection of genetic mutations in patients with suspected genetic disorders, which can facilitate effective diagnosis. METHODOLOGY/PRINCIPAL FINDINGS: We designed a capture array to mainly capture all the coding sequence (CDS) of 2,181 genes associated with 561 Mendelian diseases and conducted NGS to detect...
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