Introduction

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.

Publications

  1. Assessing the enrichment performance in targeted resequencing experiments.
    Cite this
    Frommolt P, Abdallah AT, Altmüller J, Motameny S, Thiele H, Becker C, Stemshorn K, Fischer M, Freilinger T, Nürnberg P, 2012-04-01 - Human mutation

Credits

  1. Peter Frommolt
    Developer

  2. Ali T Abdallah
    Developer

  3. Janine Altmüller
    Developer

  4. Susanne Motameny
    Developer

  5. Holger Thiele
    Developer

  6. Christian Becker
    Developer

  7. Kathryn Stemshorn
    Developer

  8. Matthias Fischer
    Developer

  9. Tobias Freilinger
    Developer

  10. Peter Nürnberg
    Investigator

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Summary
AccessionBT006415
Tool TypeApplication
Category
PlatformsLinux/Unix
Technologies
User InterfaceTerminal Command Line
Download Count0
Submitted ByPeter Nürnberg