Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

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 captu...

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Bibliografiske detaljer
Udgivet i:PLoS One
Main Authors: Liu, Yanqiu, Wei, Xiaoming, Kong, Xiangdong, Guo, Xueqin, Sun, Yan, Man, Jianfen, Du, Lique, Zhu, Hui, Qu, Zelan, Tian, Ping, Mao, Bing, Yang, Yun
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4537117/
https://ncbi.nlm.nih.gov/pubmed/26274329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0133636
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