Curry, PDK; Broda, KL; Carroll, CJ
(2021)
The Role of RNA-Sequencing as a New Genetic Diagnosis Tool.
CURRENT GENETIC MEDICINE REPORTS, 9 (2).
pp. 13-21.
ISSN 2167-4876
https://doi.org/10.1007/s40142-021-00199-x
SGUL Authors: Carroll, Christopher John
Abstract
Purpose of Review
Whole exome sequencing (WES) and whole-genome sequencing (WGS) are frontline approaches for the genetic diagnosis of rare diseases. However, WES/WGS fails in up to 75% of cases. Transcriptomics via RNA-sequencing (RNA-Seq) is a novel approach that aims to increase the diagnostic yield in rare diseases.
Recent Findings
Recent publications focus on the success of RNA-Seq for increasing diagnosis rates in WES/WGS-negative patients in up to 36% of cases, across a range of different diseases, sample sizes, and tissue types.
Summary
RNA-Seq is beneficial for aiding prioritisation of causative variants currently not detected or often overlooked by WES/WGS alone. An improvement in diagnostic yields has been demonstrated using multiple source tissues, with muscle and fibroblasts being the most representative, but the more accessible blood still demonstrating diagnostic success, particularly in neuromuscular disorders. The introduction of RNA-Seq to the genetic diagnosis toolbox promises to be a useful complementary tool to WES/WGS for improving genetic diagnosis in patients with rare disease.
Item Type: |
Article
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Additional Information: |
© The Author(s) 2021
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
Keywords: |
RNA-sequencing, Rare disease, Transcriptomics, Next-generation sequencing (NGS), Whole exome sequencing (WES) |
SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
Journal or Publication Title: |
CURRENT GENETIC MEDICINE REPORTS |
ISSN: |
2167-4876 |
Dates: |
Date | Event |
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June 2021 | Published | 23 April 2021 | Published Online | 12 March 2021 | Accepted |
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Publisher License: |
Creative Commons: Attribution 4.0 |
Web of Science ID: |
WOS:000642844600001 |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/113231 |
Publisher's version: |
https://doi.org/10.1007/s40142-021-00199-x |
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