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BioMed Research International
Volume 2015, Article ID 161648, 15 pages
Review Article

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

1CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy
2Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy
3IRCCS-Fondazione SDN, 80143 Naples, Italy

Received 6 June 2015; Revised 30 September 2015; Accepted 18 October 2015

Academic Editor: Paul Baird

Copyright © 2015 Vincenza Precone et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Next-generation sequencing (NGS) technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing. These features, together with the technology’s flexibility, have opened the way to a variety of applications including the study of the molecular basis of human diseases. Several analytical approaches have been developed to selectively enrich regions of interest from the whole genome in order to identify germinal and/or somatic sequence variants and to study DNA methylation. These approaches are now widely used in research, and they are already being used in routine molecular diagnostics. However, some issues are still controversial, namely, standardization of methods, data analysis and storage, and ethical aspects. Besides providing an overview of the NGS-based approaches most frequently used to study the molecular basis of human diseases at DNA level, we discuss the principal challenges and applications of NGS in the field of human genomics.