01909nas a2200265 4500008004100000022001400041245007900055210006900134260001600203300001100219490000700230520106400237653001001301653001801311653004201329653001101371653002701382653001301409100003301422700002301455700001901478700002001497700002701517856009901544 2014 eng d a1367-481100angsCAT: a tool to assess the efficiency of targeted enrichment sequencing.0 angsCAT a tool to assess the efficiency of targeted enrichment se c2014 Jun 15 a1767-80 v303 a

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 and other enrichment-specific features are needed.

RESULTS: We have implemented the next-generation sequencing data Capture Assessment Tool (ngsCAT), a tool that takes the information of the mapped reads and the coordinates of the targeted regions as input files, and generates a report with metrics and figures that allows the evaluation of the efficiency of the enrichment process. The tool can also take as input the information of two samples allowing the comparison of two different experiments.

AVAILABILITY AND IMPLEMENTATION: Documentation and downloads for ngsCAT can be found at http://www.bioinfomgp.org/ngscat.

10aExome10aGenome, Human10aHigh-Throughput Nucleotide Sequencing10aHumans10aSequence Analysis, DNA10aSoftware1 aLópez-Domingo, Francisco, J1 aFlorido, Javier, P1 aRueda, Antonio1 aDopazo, Joaquin1 aSantoyo-López, Javier uhttp://clinbioinfosspa.es/content/ngscat-tool-assess-efficiency-targeted-enrichment-sequencing