Translating RNA sequencing into clinical diagnostics: opportunities and challenges

被引：626

作者：

Byron, Sara A. ^{[1
]}

Van Keuren-Jensen, Kendall R. ^{[2
]}

Engelthaler, David M. ^{[3
]}

Carpten, John D. ^{[4
]}

Craig, David W. ^{[2
]}

机构：

[1] Translat Genom Res Inst, Ctr Translat Innovat, Phoenix, AZ 85004 USA

[2] Translat Genom Res Inst, Neurogen Div, Phoenix, AZ 85004 USA

[3] Translat Genom Res Inst, Pathogen Genom Div, Flagstaff, AZ 86001 USA

[4] Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA

来源：

NATURE REVIEWS GENETICS | 2016年 / 17卷 / 05期

关键词：

ALLELE-SPECIFIC EXPRESSION; GROWTH-FACTOR RECEPTOR; RT-PCR ASSAY; GENE-EXPRESSION; BREAST-CANCER; TYROSINE KINASE; PROSTATE-CANCER; MESSENGER-RNA; PERSONALIZED TREATMENT; ANALYSIS PIPELINE;

D O I：

10.1038/nrg.2016.10

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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.

引用

页码：257 / 271

页数：15

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