Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

Intronic position +9 and −9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data

Abstract 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...

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Bibliographic Details
Main Authors: Li Zhang, Minna Shen, Xianhong Shu, Jingmin Zhou, Jing Ding, Chunjiu Zhong, Baishen Pan, Beili Wang, Chunyan Zhang, Wei Guo
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Medical Genomics
Subjects:
Intronic position +9 and −9
Intronic variants
Whole exome sequencing
WES
Intron characterization
Genetic diagnosis
Online Access:https://doi.org/10.1186/s12920-023-01542-7

Internet

https://doi.org/10.1186/s12920-023-01542-7

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