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

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

Abstract Background Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn‐around time of clinical diagnosis, and therefore limited the further development of clinical applications. We a...

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Bibliographic Details
Main Authors: Jianchao Zheng, Hongyun Zhang, Santasree Banerjee, Yun Li, Junyu Zhou, Qian Yang, Xuemei Tan, Peng Han, Qinmei Fu, Xiaoli Cui, Yuying Yuan, Meiyan Zhang, Ruiqin Shen, Haifeng Song, Xiuqing Zhang, Lijian Zhao, Zhiyu Peng, Wei Wang, Ye Yin
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
NGS
quality threshold
Sanger sequencing
target enrichment
validation
Online Access:https://doi.org/10.1002/mgg3.748

Internet

https://doi.org/10.1002/mgg3.748

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