Abstract
The estimated size of the human genome is 2,872 Mbps consisting of genes and noncoding sequences of DNA. Approximately 1.5 % of the human genome is known to code for proteins and this portion is the exome. This coding sequence has been shown to be more evolutionary-conserved, thus more sensitive to change (Birney et al. 2007). The decreasing cost of sequencing, due to emerging next-generation sequencing (NGS) technologies, provides an opportunity to screen the exome at an affordable cost for gene discovery and diagnostic purposes. The great amount of information generated from the human genome sequencing, 1000 genomes project, HapMap, and whole exome sequencing (WES) projects has allowed us to interpret sequence changes with a higher level of confidence (Abecasis et al. 2012, 2010; Tennessen et al. 2012). To deal with the large sequencing datasets, a variety of bioinformatics tools have been developed to automate the process of annotation and prediction of sequence changes (Wang et al. 2010b). Due to the massive parallel nature of NGS, research and clinical applications of NGS include the sequencing of many genes, as targeted panels, exomes, and even genomes. An increase in published findings has allowed cataloging of polymorphisms and disease-associated mutations at various databases that include the database of single nucleotide polymorphisms (dbSNP), the human gene mutation database (HGMD), ENSEMBL, the 1000 genomes project database (http://www.1000genomes.org/), and the exome sequencing project database (http://evs.gs.washington.edu/EVS/) to mention a few. The large data is evident in dbSNP that has close to 53 million records and the number of new submissions has been exponentially increasing (Wheeler et al. 2007).
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Valencia, C.A., Pervaiz, M.A., Husami, A., Qian, Y., Zhang, K. (2013). Exome Sequencing as a Discovery and Diagnostic Tool. In: Next Generation Sequencing Technologies in Medical Genetics. SpringerBriefs in Genetics. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9032-6_8
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DOI: https://doi.org/10.1007/978-1-4614-9032-6_8
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