Targeted capture and massively parallel sequencing of 12 human exomes

Sarah B. Ng (), Emily H. Turner, Peggy D. Robertson, Steven D. Flygare, Abigail W. Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E. Eichler, Michael Bamshad, Deborah A. Nickerson and Jay Shendure ()
Additional contact information
Sarah B. Ng: Department of Genome Sciences,
Emily H. Turner: Department of Genome Sciences,
Peggy D. Robertson: Department of Genome Sciences,
Steven D. Flygare: Department of Genome Sciences,
Abigail W. Bigham: University of Washington
Choli Lee: Department of Genome Sciences,
Tristan Shaffer: Department of Genome Sciences,
Michelle Wong: Department of Genome Sciences,
Arindam Bhattacharjee: Agilent Technologies, Santa Clara, California 95051, USA
Evan E. Eichler: Department of Genome Sciences,
Michael Bamshad: University of Washington
Deborah A. Nickerson: Department of Genome Sciences,
Jay Shendure: Department of Genome Sciences,

Nature, 2009, vol. 461, issue 7261, 272-276

Abstract: Targeting the human exome DNA sequencing costs have fallen dramatically in recent years, but they are still too high for whole-genome sequencing to be used routinely to identify rare and novel variants in large cohorts. Here Ng et al. demonstrate that targeted capture and massively parallel sequencing could be a cost-effective, reproducible, and robust strategy for the sensitive and specific identification of variants causing protein-coding changes in individual human genomes. Using this 'second generation' approach to sequencing they determine 307 megabases across the exomes (the protein-coding regions of the genome) of 12 individuals. Freeman–Sheldon syndrome is used as a proof-of-concept to show that candidate genes for monogenic disorders can be identified by exome sequencing of a small number of unrelated, affected individuals.

Date: 2009
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DOI: 10.1038/nature08250

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