In this paper, three commercial whole-exome sequencing platforms — from Agilent, Nimblegen and Illumina — are systematically compared based on their ability to detect variants in the same human sample. The balance between exome coverage and target-enrichment efficiency was influenced by the different design features (such as bait density) and parameter settings of each platform. Interestingly, exome sequencing detects variants that are missed by whole-genome sequencing, suggesting that deep-targeted sequencing affords greater sensitivity than even genome coverage.
ORIGINAL RESEARCH PAPER
Clark, M. J. et al. Performance comparison of exome DNA sequencing technologies. Nature Biotech. 25 Sep 2011 (doi:10.1038/nbt.1975)
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Casci, T. Exome sequencing technologies compared. Nat Rev Genet 12, 741 (2011). https://doi.org/10.1038/nrg3102
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DOI: https://doi.org/10.1038/nrg3102