ngsCAT Capture Assessment Tool for NGS data
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ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing
MOTIVATION 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 a...
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تاریخ انتشار 2014