Whole-Exome Enrichment with the Roche NimbleGen SeqCap EZ Exome Library SR Platform

Cold Spring Harb Protoc. 2015 Mar 11;2015(7):634-41. doi: 10.1101/pdb.prot084855.


Multiple platforms are available for whole-exome enrichment and sequencing (WES). This protocol is based on the Roche NimbleGen SeqCap EZ Exome Library SR platform, which enriches for ∼44 Mb of the human exonic regions. The SeqCap system uses 55- to 105-base DNA probes to capture known coding DNA sequences (CDS) from the NCBI Consensus CDS Database, RefSeq, and Sanger miRBase. 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