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.

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives / Precone, Vincenza; DEL MONACO, Valentina; Esposito, MARIA VALERIA; De Palma, Fatima Domenica Elisa; Ruocco, Anna; Salvatore, Francesco; D'Argenio, Valeria. - In: BIOMED RESEARCH INTERNATIONAL. - ISSN 2314-6133. - 2015:(2015), pp. 1-15. [10.1155/2015/161648]

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

DEL MONACO, VALENTINA;ESPOSITO, MARIA VALERIA;De Palma, Fatima Domenica Elisa;RUOCCO, ANNA;SALVATORE, FRANCESCO;D'ARGENIO, VALERIA
2015

Abstract

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.
2015
Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives / Precone, Vincenza; DEL MONACO, Valentina; Esposito, MARIA VALERIA; De Palma, Fatima Domenica Elisa; Ruocco, Anna; Salvatore, Francesco; D'Argenio, Valeria. - In: BIOMED RESEARCH INTERNATIONAL. - ISSN 2314-6133. - 2015:(2015), pp. 1-15. [10.1155/2015/161648]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/621040
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