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Article

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

BMC medical genomics - 26 Jun 2023

Zhang Li, Shen Minna, Shu Xianhong, Zhou Jingmin, Ding Jing, Zhong Chunjiu, Pan Baishen, Wang Beili, Zhang Chunyan, Guo Wei

Abstract excerpt

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. A total of 269 WES data was analyzed, 688,778 raw variants were...

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Identifiers

PMID: 37365551
DOI: 10.1186/s12920-023-01542-7
PMCID: PMC10291791

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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