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Targeted enrichment sequencing by next-generation sequencing is a common approach to interrogate specific loci or the whole exome in the human genome. The efficiency and the lack of bias in the enrichment process need to be assessed as a quality control step before performing downstream analysis of the sequence data. Tools that can report on the sensitivity, specificity, uniformity and other enrichment-specific features are needed.
(Lopez-Domingo et al., 2014) ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics.