VarBen: Generating in silico Reference Datasets for Clinical Next-Generation Sequencing Bioinformatics Pipeline Evaluation
The Journal of molecular diagnostics : JMD, 2020.
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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