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

Bin Zhang; Xin Gao

doi:10.1038/s41588-023-01363-5

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

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Journal	Nature Genetics
DOIs	https://doi.org/10.1038/s41588-023-01363-5
State	Published - May 4 2023

Bibliographical note

KAUST Repository Item: Exported on 2023-05-08
Acknowledged KAUST grant number(s): FCC/1/1976-44-01, FCC/1/1976-45-01, REI/1/5234-01-01
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.

ASJC Scopus subject areas

Genetics

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10.1038/s41588-023-01363-5

https://repository.kaust.edu.sa/bitstream/10754/691533/1/NG_news_views_Gao.pdf

Cite this

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title = "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.",

author = "Bin Zhang and Xin Gao",

note = "KAUST Repository Item: Exported on 2023-05-08 Acknowledged KAUST grant number(s): FCC/1/1976-44-01, FCC/1/1976-45-01, REI/1/5234-01-01 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.",

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doi = "10.1038/s41588-023-01363-5",

language = "English (US)",

journal = "Nature Genetics",

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AU - Gao, Xin

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N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10754/691533

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

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DO - 10.1038/s41588-023-01363-5

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SN - 1061-4036

JO - Nature Genetics

JF - Nature Genetics

ER -

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

Abstract

Bibliographical note

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