The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Translating RNA sequencing into clinical diagnostics: opportunities and challenges
Open accessAbstract
RNA sequencing (RNA-seq) is a powerful approach for comprehensive analyses of transcriptomes. This Review describes the widespread potential applications of RNA-seq in clinical medicine, such as detecting disease-associated mutations and gene expression disruptions, as well as characteristic non-coding RNAs, circulating extracellular RNAs or pathogen RNAs. The authors also highlight the challenges in adopting RNA-seq routinely into clinical practice. With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules hold expanded promise for their diagnostic, prognostic and therapeutic applicability in various diseases, including cancers and infectious diseases. Detection of gene fusions and differential expression of known disease-causing transcripts by RNA-seq represent some of the most immediate opportunities. However, it is the diversity of RNA species detected through RNA-seq that holds new promise for the multi-faceted clinical applicability of RNA-based measures, including the potential of extracellular RNAs as non-invasive diagnostic indicators of disease. Ongoing efforts towards the establishment of benchmark standards, assay optimization for clinical conditions and demonstration of assay reproducibility are required to expand the clinical utility of RNA-seq.
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Metadata
- Authors
- Byron, S. A., Van Keuren-Jensen, K. R., Engelthaler, D. M., Carpten, J. D., & Craig, D. W.
- Venue
- Nature Reviews Genetics
- Published
- 2016-03-21
- Volume
- 17
- Issue
- 5
- Pages
- 257-271
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2308074142
- Cited by
- 809
- References
- 24
- FWCI
- 10.10
- Type
- journal article
- Language
- en
- Open access
- hybrid
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