Translating RNA sequencing into clinical diagnostics: opportunities and challenges

By S. Byron, Kendall Van Keuren-Jensen, D. Engelthaler, J. Carpten, D. Craig. Nature reviews genetics, 2016

692 citations recorded by the source corpus.

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.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/5ea180ec9eaba7722cef434a2391fe73b7d342ea

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Citations in the corpus

Integrative Clinical Genomics of Metastatic Cancer (2017, positive): “…testing of tumors, there remains the promise of matching patients to the right therapy based on comprehensive molecular profiles 3 of pathogenic somatic 4,5 and germline 6 variants, and components of the functional genome, tumor phenotype, and tumor microenvironment afforded by RNA sequencing 7,8 .”
Integrating personalized gene expression profiles into predictive disease-associated gene pools (2017, background): “33 Such signatures are of key importance for personalized medicine and could, for example, help diagnose previously unrecognized diseases.”