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Genetic testing

The diagnostic power of RNA-seq

Nature Reviews Genetics volume 18, page 392 (2017)Cite this article

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The authors sourced RNA from the muscle tissue of 63 patients with suspected monogenic muscle disorders; 13 of these patients harboured genetic variants known to affect transcription and 50 patients were undiagnosed following genetic analysis. They then performed RNA-seq using the protocol employed by the Genotype-Tissue Expression (GTEx) Consortium project and looked for transcript-level changes that were unique to patients as compared to 184 skeletal muscle RNA-seq control samples from the GTEx project. Using this approach, RNA-seq could identify the splice aberrations caused by the genetic variants known to cause disease in the 13 diagnosed patients, which validated this approach that subsequently enabled novel diagnoses.

analysing the transcriptome of diseased muscle tissue ... aids in the diagnosis of genetic primary muscle disorders

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References

  1. Cummings, B. B. et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci. Transl Med. 9, eaal5209 (2017)

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  1. Katharine H. Wrighton
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Byron, S. A. et al. Translating RNA sequencing into clinical diagnostics: opportunities and challenges. Nat. Rev. Genet. 17, 257–271 (2016)

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Wrighton, K. The diagnostic power of RNA-seq. Nat Rev Genet 18, 392 (2017). https://doi.org/10.1038/nrg.2017.39

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