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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Web Resources/URLs
GENCODE: http://genecodes.com/
SureSelect Human All Exon 50 Mb kit: http://www.home.agilent.com/
miRBase: http://www.mirbase.org/
Burrows-Wheeler Aligner (BWA): http://bio-bwa.sourceforge.net/
NovoAlign: http://www.novocraft.com/main/index.php
Genome Analysis Toolkit (GATK): http://www.broadinstitute.org/gsa/wiki/index.php/Main_Page
CLC Bio Genomics Workbench: http://www.clcbio.com/
Partek: http://www.partek.com/
Strand Life Sciences Avadis NGS: http://www.strandls.com/
Acknowledgment
The authors are supported by Intramural Research Program of the National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
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Priya, R.R., Rajasimha, H.K., Brooks, M.J., Swaroop, A. (2012). Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene Discovery. In: Wang, SZ. (eds) Retinal Development. Methods in Molecular Biology, vol 884. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-61779-848-1_24
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DOI: https://doi.org/10.1007/978-1-61779-848-1_24
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