VarBen: Generating in silico Reference Datasets for Clinical Next-Generation Sequencing Bioinformatics Pipeline Evaluation

Ziyang Li
Ziyang Li
Shuangsang Fang
Shuangsang Fang
Lijia Yu
Lijia Yu
Jiawei Zhang
Jiawei Zhang

The Journal of molecular diagnostics : JMD, 2020.

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Abstract:

Next-generation sequencing (NGS) 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...More

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