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

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

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.We designed a capture array to mainly capture all the coding sequence (CDS) of 2,181 gen...

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Bibliographic Details
Main Authors: Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4537117?pdf=render

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http://europepmc.org/articles/PMC4537117?pdf=render

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