Exome Capture

Exome capture is a method used to enrich and sequence the exome (collection of all exons) in a genome and compare this variation across a sample of individual organisms. This allows studies to quickly focus in on the small percent of the genome that is most likely to contain variation that strongly affects phenotypes of interest.

Bamshad, M. J., Ng, S. B., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., & Shendure, J. (2011). Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics, 12(11), 745-755.[1]

Bi, K., Vanderpool, D., Singhal, S., Linderoth, T., Moritz, C., & Good, J. M. (2012). Transcriptome-based exon capture enables highly cost-effective comparative genomic data collection at moderate evolutionary scales. BMC genomics, 13(1), 403.[2]

Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., ... & Lifton, R. P. (2009). Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences, 106(45), 19096-19101.[3]

Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., ... & Shendure, J. (2009). Targeted capture and massively parallel sequencing of 12 human exomes. Nature, 461(7261), 272-276.[4]

Teer, J. K., & Mullikin, J. C. (2010). Exome sequencing: the sweet spot before whole genomes. Human molecular genetics, ddq333.[5]