Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

Aberrant splicing

Deciphering DNA variant-associated aberrant splicing with the aid of RNA sequencing

Nature Genetics volume 55, pages 732–733 (2023)Cite this article

Subjects

A Publisher Correction to this article was published on 12 June 2023

This article has been updated

Aberrant RNA splicing events resulting from DNA variations are common causes of genetic disorders. Two studies published in Nature Genetics independently describe methods to decipher DNA-variant-associated aberrant splicing using high-throughput RNA sequencing data.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1: A schematic illustration of the genetic diagnostics based on the identification of DNA variants, aberrant splicing junctions and the full-length of aberrant spliced transcripts.

Change history

References

  1. Baralle, D. & Buratti, E. Clin. Sci. (Lond.) 131, 355–368 (2017).

    Article  CAS  PubMed  Google Scholar 

  2. Maddirevula, S. et al. Genome Biol. 21, 145 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Li, Z. et al. Cell Rep. Methods 3, 100384 (2023).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Cheng, J. et al. Genome Biol. 20, 48 (2019).

    Article  PubMed  PubMed Central  Google Scholar 

  5. Jaganathan, K. et al. Cell 176, 535–548 (2019). e524.

    Article  CAS  PubMed  Google Scholar 

  6. Dawes, R. et al. Nat. Genet. https://doi.org/10.1038/s41588-022-01293-8 (2023).

    Article  PubMed  PubMed Central  Google Scholar 

  7. Wagner, N. et al. Nat. Genet. https://doi.org/10.1038/s41588-023-01373-3 (2023).

    Article  PubMed  Google Scholar 

  8. Mele, M. et al. Science 348, 660–665 (2015).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Wang, E. T. et al. Nature 456, 470–476 (2008).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Mertes, C. et al. Nat. Commun. 12, 529 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Consortium, G. T. Nat. Genet. 45, 580–585 (2013).

    Article  Google Scholar 

  12. Wilks, C. et al. Genome Biol. 22, 323 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Bournazos, A. M. et al. Genet. Med. 24, 130–145 (2022).

    Article  CAS  PubMed  Google Scholar 

  14. Fresard, L. et al. Nat. Med. 25, 911–919 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Glinos, D. A. et al. Nature 608, 353–359 (2022).

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

This publication is based upon work supported by the King Abdullah University of Science and Technology (KAUST) Office of Research Administration (ORA) under award no. FCC/1/1976-44-01, FCC/1/1976-45-01, and REI/1/5234-01-01.

Author information

Authors and Affiliations

  1. Computer Science Program, Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia

    Bin Zhang & Xin Gao

  2. KAUST Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia

    Bin Zhang & Xin Gao

Authors
  1. Bin Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Xin Gao
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Xin Gao.

Ethics declarations

Competing interests

The authors declare no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zhang, B., Gao, X. Deciphering DNA variant-associated aberrant splicing with the aid of RNA sequencing. Nat Genet 55, 732–733 (2023). https://doi.org/10.1038/s41588-023-01363-5

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41588-023-01363-5

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing