Article
Optimized PCR-Based Enrichment Improves Coverage Uniformity and Mutation Detection in Mitochondrial DNA Next-Generation Sequencing.
The Journal of molecular diagnostics : JMD - 1 Apr 2020
Liu Yang, Guo Shanshan, Yin Chun, Guo Xu, Liu Manling, Yuan Zhidong, Zhao Zheng, Jia Yongfeng, Xing Jinliang
Abstract excerpt
Next-generation sequencing-based methods have been commonly used for detecting mutations of mitochondrial genome (mtDNA). PCR amplification is a highly effective method of mtDNA enrichment before sequencing. However, it has been observed that highly variable sequencing depth within PCR amplicons severely reduces the coverage uniformity and accuracy of mutation calling. Therefore, it is necessary to develop an...
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