title: Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.
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.
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
authors.forename: Vincenza
authors.initials: V
authors.lastname: Precone
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Del Monaco
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy.
authors.forename: Maria Valeria
authors.initials: MV
authors.lastname: Esposito
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
authors.forename: Fatima Domenica Elisa
authors.initials: FD
authors.lastname: De Palma
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Ruocco
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy ; IRCCS-Fondazione SDN, 80143 Naples, Italy.
authors.forename: Francesco
authors.identifier: 0000-0002-2346-3564
authors.initials: F
authors.lastname: Salvatore
authors.affiliation: CEINGE-Biotecnologie Avanzate, Via G Salvatore 486, 80145 Naples, Italy ; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Ed. 19, Via Sergio Pansini 5, 80131 Naples, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: D'Argenio
mesh_terms: D019175:DNA Methylation / Q000235:genetics; D030541:Databases, Genetic; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology; D015894:Genome, Human; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation