Fig. 2.

Effect of variant caller sensitivity and VAF on variant detection. Simulated traces of wild-type and variant frequencies in a genomic region. (A) Simulated germline sample showing most variant frequencies clustered around 0, 0.5, and 1. This allows variant calling algorithms to exclude VAFs outside of narrow ranges as experimental error. (B) Simulated cancer somatic sample showing wider ranges of variant frequencies, including very low frequencies. Optimal variant caller tuning can increase the sensitivity of variant callers to detect rare variants.