Evaluation of somatic variant callers for next-generation sequencing data

In order to evaluate the performance of different somatic callers under varied VAFs and coverage, a dilution series deep targeted sequencing data experimentally were generated to mimick more realistically the detection of low VAF mutations. The two cell lines from the GIAB project, NA12878 and NA24385 were combined to mimic tumor data. We diluted the NA24385 DNA with an increasing amount of NA12878 DNA from 1% to 50% to estimate the performance in detecting mutations within a range of VAFs.