Whole-Exome Enrichment with the Illumina TruSeq Exome Enrichment Platform

Cold Spring Harb Protoc. 2015 Mar 11;2015(7):642-8. doi: 10.1101/pdb.prot084863.


Multiple platforms are available for whole-exome enrichment and sequencing (WES). This protocol is based on the Illumina TruSeq Exome Enrichment platform, which captures ∼62 Mb of the human exonic regions using 95-base DNA probes. In addition to covering the RefSeq and Ensembl coding sequences, the enriched sequences also include ∼28 Mb of RefSeq untranslated regions (UTR). The protocol can be performed at the benchside without the need for automation, and the resulting library can be used for targeted next-generation sequencing on an Illumina HiSeq 2000 sequencer.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Exome*
  • Gene Library
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Biology / methods*
  • Sequence Analysis, DNA