Format

Send to

Choose Destination
Nat Rev Genet. 2016 May;17(5):257-71. doi: 10.1038/nrg.2016.10. Epub 2016 Mar 21.

Translating RNA sequencing into clinical diagnostics: opportunities and challenges.

Author information

1
Center for Translational Innovation, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
2
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
3
Pathogen Genomics Division, Translational Genomics Research Institute, Flagstaff, Arizona 86001, USA.
4
Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.

Abstract

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.

PMID:
26996076
DOI:
10.1038/nrg.2016.10
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center