RNA Sequencing in Disease Diagnosis.

Document Type

Article

Publication Date

8-2024

Identifier

DOI: 10.1146/annurev-genom-021623-121812

Abstract

RNA sequencing (RNA-seq) enables the accurate measurement of multiple transcriptomic phenotypes for modeling the impacts of disease variants. Advances in technologies, experimental protocols, and analysis strategies are rapidly expanding the application of RNA-seq to identify disease biomarkers, tissue- and cell-type-specific impacts, and the spatial localization of disease-associated mechanisms. Ongoing international efforts to construct biobank-scale transcriptomic repositories with matched genomic data across diverse population groups are further increasing the utility of RNA-seq approaches by providing large-scale normative reference resources. The availability of these resources, combined with improved computational analysis pipelines, has enabled the detection of aberrant transcriptomic phenotypes underlying rare diseases. Further expansion of these resources, across both somatic and developmental tissues, is expected to soon provide unprecedented insights to resolve disease origin, mechanism of action, and causal gene contributions, suggesting the continued high utility of RNA-seq in disease diagnosis.

Journal Title

Annual review of genomics and human genetics

Volume

25

Issue

1

First Page

353

Last Page

367

MeSH Keywords

Humans; Sequence Analysis, RNA; Transcriptome

Keywords

RNA sequencing; genetic disease; transcriptomics

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