Assessing the enrichment performance in targeted resequencing experiments

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Item Type:	Article
Title:	Assessing the enrichment performance in targeted resequencing experiments
Creators Name:	Frommolt, P., Abdallah, A.T., Altmüller, J., Motameny, S., Thiele, H., Becker, C., Stemshorn, K., Fischer, M., Freilinger, T. and Nürnberg, P.
Abstract:	Target enrichment strategies are a very common approach to sequence a predefined part of an individual's genome using second-generation sequencing technologies. While highly dependent on the technology and the target sequences selected, the performance of the various assays is also variable between samples and is influenced by the way how the libraries are handled in the laboratory. Here, we show how to find detailed information about the enrichment performance using a novel software package called NGSrich, which we developed as a part of a whole-exome resequencing pipeline in a medium-sized genomics center. Our software is suitable for high-throughput use and the results can be shared using HTML and a web server. Finally, we have sequenced exome-enriched DNA libraries of 18 human individuals using three different enrichment products and used our new software for a comparative analysis of their performance.
Keywords:	Whole-Exome Resequencing, Target Enrichment, Analysis Pipeline, Assay Evaluation
Source:	Human Mutation
ISSN:	1098-1004
Publisher:	Wiley-Blackwell
Volume:	33
Number:	4
Page Range:	635-41
Date:	April 2012
Official Publication:	https://doi.org/10.1002/humu.22036
PubMed:	View item in PubMed

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