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Biological Chemistry

Editor-in-Chief: Brüne, Bernhard

Editorial Board: Buchner, Johannes / Lei, Ming / Ludwig, Stephan / Sies, Helmut / Thomas, Douglas D. / Turk, Boris / Wittinghofer, Alfred

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Volume 395, Issue 2


Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

Janine Altmüller
  • Corresponding author
  • Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany
  • These authors contributed equally to this article.
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Birgit S. Budde
  • Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany
  • These authors contributed equally to this article.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Peter Nürnberg
  • Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany
  • Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, D-50674 Cologne, Germany
  • Center for Molecular Medicine Cologne, University of Cologne, D-50931 Cologne, Germany
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2013-09-05 | DOI: https://doi.org/10.1515/hsz-2013-0199


Targeted re-sequencing such as gene panel sequencing (GPS) has become very popular in medical genetics, both for research projects and in diagnostic settings. The technical principles of the different enrichment methods have been reviewed several times before; however, new enrichment products are constantly entering the market, and researchers are often puzzled about the requirement to take decisions about long-term commitments, both for the enrichment product and the sequencing technology. This review summarizes important considerations for the experimental design and provides helpful recommendations in choosing the best sequencing strategy for various research projects and diagnostic applications.

Keywords: gene panel sequencing; target enrichment


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About the article

Corresponding author: Janine Altmüller, Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany, e-mail:

Received: 2013-06-17

Accepted: 2013-08-30

Published Online: 2013-09-05

Published in Print: 2014-02-01

Citation Information: Biological Chemistry, Volume 395, Issue 2, Pages 231–237, ISSN (Online) 1437-4315, ISSN (Print) 1431-6730, DOI: https://doi.org/10.1515/hsz-2013-0199.

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