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

Authors :
Maria Valeria Esposito
Fatima Domenica Elisa De Palma
Anna Lilia Ruocco
Valeria D'Argenio
Valentina Del Monaco
Francesco Salvatore
Vincenza Precone
Precone, Vincenza
DEL MONACO, Valentina
Esposito, MARIA VALERIA
De Palma, Fatima Domenica Elisa
Ruocco, Anna
Salvatore, Francesco
D'Argenio, Valeria
Source :
BioMed Research International, Vol 2015 (2015), BioMed Research International
Publication Year :
2015
Publisher :
Hindawi Limited, 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.

Details

Language :
English
ISSN :
23146141 and 23146133
Volume :
2015
Database :
OpenAIRE
Journal :
BioMed Research International
Accession number :
edsair.doi.dedup.....8c952c180afa6cb443a0d1fe97848a5c