title: Translating RNA sequencing into clinical diagnostics: opportunities and challenges.
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.
authors.affiliation: Center for Translational Innovation, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
authors.forename: Sara A
authors.initials: SA
authors.lastname: Byron
authors.affiliation: Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
authors.forename: Kendall R
authors.initials: KR
authors.lastname: Van Keuren-Jensen
authors.affiliation: Pathogen Genomics Division, Translational Genomics Research Institute, Flagstaff, Arizona 86001, USA.
authors.forename: David M
authors.initials: DM
authors.lastname: Engelthaler
authors.affiliation: Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
authors.forename: John D
authors.initials: JD
authors.lastname: Carpten
authors.affiliation: Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona 85004, USA.
authors.forename: David W
authors.initials: DW
authors.lastname: Craig
mesh_terms: D019295:Computational Biology / Q000379:methods; D003955:Diagnostic Tests, Routine / Q000379:methods*; D004194:Disease / Q000235:genetics*; D020869:Gene Expression Profiling; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D012313:RNA / Q000235:genetics*; D017423:Sequence Analysis, RNA / Q000379:methods*
chemical_list: D012313:RNA