MERIT reveals the impact of genomic context on sequencing error rate in ultra-deep applications.
Mohammad HadigolHossein KhiabanianPublished in: BMC bioinformatics (2018)
Our results demonstrate significant variation in nucleotide misincorporation rates, and suggest that genomic context should be considered for comprehensive profiling of specimen-specific and sequencing artifacts in high-depth assays. This data provide strong evidence against assigning a single allele frequency threshold to call mutations, for it can result in substantial false positive as well as false negative variants, with important clinical consequences.