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MERIT reveals the impact of genomic context on sequencing error rate in ultra-deep applications.

Mohammad HadigolHossein Khiabanian
Published 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.
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