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Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives
- 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.
- Subjects :
- Standardization
Immunology and Microbiology (all)
lcsh:Medicine
Genomics
Computational biology
Review Article
Biology
Genome
General Biochemistry, Genetics and Molecular Biology
DNA sequencing
Databases, Genetic
Humans
Genetics
Flexibility (engineering)
Biochemistry, Genetics and Molecular Biology (all)
General Immunology and Microbiology
Genome, Human
lcsh:R
Genetic Diseases, Inborn
High-Throughput Nucleotide Sequencing
General Medicine
DNA Methylation
Molecular diagnostics
Mutation
Human genome
Personal genomics
Subjects
Details
- Language :
- English
- ISSN :
- 23146141 and 23146133
- Volume :
- 2015
- Database :
- OpenAIRE
- Journal :
- BioMed Research International
- Accession number :
- edsair.doi.dedup.....8c952c180afa6cb443a0d1fe97848a5c