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Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery
Rinki Ratna Priya1, Harsha Karur Rajasimha, Matthew J Brooks
1Neurobiology 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.
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