ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing | Zendy

Francisco J. López-Domingo | Zendy; Javier Pérez-Florido | Zendy; Antonio Rueda | Zendy; Joaquı́n Dopazo | Zendy; Javier SantoyoLópez | Zendy

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ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing

Author(s) -

Francisco J. López-Domingo,

Javier Pérez-Florido,

Antonio Rueda,

Joaquı́n Dopazo,

Javier SantoyoLópez

Publication year - 2014

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btu108

Subject(s) - computer science , documentation , process (computing) , exome , data mining , exome sequencing , dna sequencing , computational biology , biology , operating system , genetics , mutation , dna , gene

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.

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