Abstract
Next-generation sequencing (NGS) holds a number of advantages over traditional Sanger sequencing, the most obvious being able to do panel testing in a shorter span of time at a lower cost (Hu et al. 2009). A number of phenotypically similar diseases can have a number of different genetic causes (Hoischen et al. 2010). This genetic heterogeneity, seen in congenital muscular dystrophies (Chap. 6), congenital disorders of glycosylation (CDG), and hearing loss (Chap. 7), can be addressed by NGS by simply sequencing all genes related to specific phenotypes (Rehman et al. 2010; Lim et al. 2011; Valencia et al. 2012). In the case of CDG, NGS is a time- and cost-effective tool for comprehensive mutations screening of metabolic diseases caused by mutations in different genes of a common pathway. In addition, its use can be applied to disorders that have a variable presentation but can raise flags for a certain set of diseases such as mitochondrial defects. One distinct advantage can be seen in the field of cancer genetics where panel testing can save a significant amount of time by reaching a diagnosis (Chan et al. 2012). An interesting application of NGS is in the application of noninvasive prenatal diagnosis of aneuploidies and trisomies 21, 18, and 13 (Chap. 5; Chiu et al. 2008).
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Valencia, C.A., Pervaiz, M.A., Husami, A., Qian, Y., Zhang, K. (2013). Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview. 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_4
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