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

Abstract
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.

Citation
Zhang, B., & Gao, X. (2023). Deciphering DNA variant-associated aberrant splicing with the aid of RNA sequencing. Nature Genetics. https://doi.org/10.1038/s41588-023-01363-5

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.

Publisher
Springer Science and Business Media LLC

Journal
Nature Genetics

DOI
10.1038/s41588-023-01363-5
10.1038/s41588-023-01441-8

PubMed ID
37142847
37308788

Additional Links
https://www.nature.com/articles/s41588-023-01363-5

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