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ICT Aspects of Next-Generation-Sequencing Applied to Molecular Diagnostics

ICT Aspects of Next-Generation-Sequencing Applied to Molecular Diagnostics
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Author(s): Saskia Biskup (Institute for Clinical Genetics at Klinikum Stuttgart, Germany & CeGaT GmbH, Germany)
Copyright: 2013
Pages: 10
Source title: Handbook of Research on ICTs and Management Systems for Improving Efficiency in Healthcare and Social Care
Source Author(s)/Editor(s): Maria Manuela Cruz-Cunha (Polytechnic Institute of Cavado and Ave, Portugal), Isabel Maria Miranda (Municipality of Guimarães, Portugal)and Patricia Gonçalves (School of Technology at the Polytechnic Institute of Cavado and Ave, Portugal)
DOI: 10.4018/978-1-4666-3990-4.ch047

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Abstract

Next-Generation-Sequencing (NGS) techniques are currently on the rise. This is seen as a revolution by (most) geneticists. The wealth of data stemming from Next-Generation-Sequencing will without a doubt lead to significant advances in the field of molecular diagnostics. On the clinical side, this will be higher detection rates of the genetic causes of particular diseases in patients. On the scientific side, NGS techniques will lead to the discovering of genes related to certain diseases (see, for example, Mardis, et al., 2009; Haack, et al., 2010; Lupski, et al., 2010). However, these advances come at a price: geneticists will be confronted with different and new ICT issues related to NGS. Because of the so far unknown amount of data stemming from NGS, these ICT issues need to be taken seriously. The purpose of this chapter is to give an overview on the different ICT aspects that come with the introduction of Next-Generation-Sequencing in molecular diagnostics.

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