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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.

SUBMITTER: Byron SA

PROVIDER: S-EPMC7097555 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature

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Translating RNA sequencing into clinical diagnostics: opportunities and challenges.

Byron Sara A SA Van Keuren-Jensen Kendall R KR Engelthaler David M DM Carpten John D JD Craig David W DW

Nature reviews. Genetics 20160321 5

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 ...[more]

PMID: 26996076

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