Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis...
Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data
About this item
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Author / Creator
Zhang, Li , Shen, Minna , Shu, Xianhong , Zhou, Jingmin , Ding, Jing , Zhong, Chunjiu , Pan, Baishen , Wang, Beili , Zhang, Chunyan and Guo, Wei
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
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More information
Scope and Contents
Contents
Whole exome sequencing (WES) can also detect some intronic variants, which may affect splicing and gene expression, but how to use these intronic variants, and the characteristics about them has not been reported. This study aims to reveal the characteristics of intronic variant in WES data, to further improve the clinical diagnostic value of WES....
Alternative Titles
Full title
Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f350976eade44feaa5547e216cbba3b9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f350976eade44feaa5547e216cbba3b9
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-023-01542-7
