UNIT 7.12 Exome Sequencing by Targeted Enrichment

  1. Michael James Clark1,
  2. Rui Chen1,
  3. Michael Snyder1,2

Published Online: 1 APR 2013

DOI: 10.1002/0471142727.mb0712s102

Current Protocols in Molecular Biology

Current Protocols in Molecular Biology

How to Cite

Clark, M. J., Chen, R. and Snyder, M. 2013. Exome Sequencing by Targeted Enrichment. Current Protocols in Molecular Biology. 102:7.12:7.12.1–7.12.21.

Author Information

  1. 1

    Department of Genetics, Stanford University School of Medicine, Palo Alto, California

  2. 2

    Center for Genomics and Personalized Medicine, Stanford University, Palo Alto, California

Publication History

  1. Published Online: 1 APR 2013
  2. Published Print: APR 2013


This unit describes methods for targeted enrichment of the exon-coding portions of the genome using Agilent SureSelect Human All Exon 50 Mb and Roche Nimblegen SeqCap EZ Exome platforms. Each platform targets and enriches a large overlapping portion of the greater human exome. The protocols here describe the biochemical procedures used to enrich exomic DNA with each platform, including recommended modifications to the manufacturers' protocols. In addition, a brief description of the sequencing protocol and estimation of the needed amount of sequencing for each platform is included. Finally, a detailed analytical pipeline for processing the subsequent data is described. These protocols focus specifically on human exome sequencing platforms, but can be applied with some modification to other organisms and targeted enrichment approaches. Curr. Protoc. Mol. Biol. 102:7.12.1–7.12.21. © 2013 by John Wiley & Sons, Inc.


  • exome sequencing;
  • high-throughput sequencing;
  • next-generation sequencing;
  • target enrichment;
  • bioinformatics