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Article

VarBen: Generating in Silico Reference Data Sets for Clinical Next-Generation Sequencing Bioinformatics Pipeline Evaluation.

The Journal of molecular diagnostics : JMD - 1 Mar 2021

Li Ziyang, Fang Shuangsang, Zhang Rui, Yu Lijia, Zhang Jiawei, Bu Dechao, Sun Liang, Zhao Yi, Li Jinming

Abstract excerpt

Next-generation sequencing is increasingly being adopted as a valuable method for the detection of somatic variants in clinical oncology. However, it is still challenging to reach a satisfactory level of robustness and standardization in clinical practice when using the currently available bioinformatics pipelines to detect variants from raw sequencing data. Moreover, appropriate reference data sets are lacking...

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PMID: 33346148
DOI: 10.1016/j.jmoldx.2020.11.010

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