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

Author:

Altmüller Janine1,Budde Birgit S.12,Nürnberg Peter134

Affiliation:

1. Cologne Center for Genomics, University of Cologne, D-50931 Cologne, Germany

2. These authors contributed equally to this article.

3. Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, D-50674 Cologne, Germany

4. Center for Molecular Medicine Cologne, University of Cologne, D-50931 Cologne, Germany

Abstract

Abstract 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.

Publisher

Walter de Gruyter GmbH

Subject

Clinical Biochemistry,Molecular Biology,Biochemistry

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