Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Pagnamenta, AT; Lise, S; Harrison, V; Stewart, H; Jayawant, S; Quaghebeur, G; Deng, AT; Murphy, VE; Sadighi Akha, E; Rimmer, A; Mathieson, I; Knight, SJ; Kini, U; Taylor, JC; Keays, DA

Abstract:

The development of next generation sequencing (NGS) has radically transformed the scientific landscape, making it possible to sequence the exome of any given individual in a cost-effective way. The power of this approach has been demonstrated by a number of groups who have identified pathogenic mutations in small pedigrees that have been resistant to traditional genetic mapping. Recently it has become clear that exome sequencing has great potential with respect to sporadic disease and the ide...

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APA Style

Pagnamenta, A. T., Lise, S., Harrison, V., Stewart, H., Jayawant, S., Quaghebeur, G., Deng, A. T., Murphy, V. E., Sadighi Akha, E., Rimmer, A., Mathieson, I., Knight, S. J., Kini, U., Taylor, J. C., & Keays, D. A. (2012). Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. Journal of Human Genetics, 57(1), 70–72.

MLA Style

Pagnamenta, A. T., et al. “Exome Sequencing Can Detect Pathogenic Mosaic Mutations Present at Low Allele Frequencies.” Journal of Human Genetics, vol. 57, no. 1, 2012, pp. 70–72.

Chicago Style

Pagnamenta, AT, S Lise, V Harrison, H Stewart, S Jayawant, G Quaghebeur, AT Deng, et al. 2012. “Exome Sequencing Can Detect Pathogenic Mosaic Mutations Present at Low Allele Frequencies.” Journal of Human Genetics 57 (1): 70–72.
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