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Methods Mol Biol. 2012;884:335-51. doi: 10.1007/978-1-61779-848-1_24.

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.

Author information

1
Neurobiology Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

Abstract

In humans, protein-coding exons constitute 1.5-1.7% of the human genome. Targeted sequencing of all coding exons is termed as exome sequencing. This method enriches for coding sequences at a genome-wide scale from 3 μg of DNA in a hybridization capture. Exome analysis provides an excellent opportunity for high-throughput identification of disease-causing variations without the prior knowledge of linkage or association. A comprehensive landscape of coding variants could also offer valuable mechanistic insights into phenotypic heterogeneity and genetic epistasis.

PMID:
22688718
DOI:
10.1007/978-1-61779-848-1_24
[Indexed for MEDLINE]

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