Comparison of somatic mutation calling methods in amplicon and whole exome sequence data

  title={Comparison of somatic mutation calling methods in amplicon and whole exome sequence data},
  author={Huilei Xu and John DiCarlo and Ravi Vijaya Satya and Quan Peng and Yexun Wang},
  booktitle={BMC Genomics},
High-throughput sequencing is rapidly becoming common practice in clinical diagnosis and cancer research. Many algorithms have been developed for somatic single nucleotide variant (SNV) detection in matched tumor-normal DNA sequencing. Although numerous studies have compared the performance of various algorithms on exome data, there has not yet been a systematic evaluation using PCR-enriched amplicon data with a range of variant allele fractions. The recently developed gold standard variant set… CONTINUE READING
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