Article

Systematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data

2024-02-23

Abstract excerpt

Genomic variants causing abnormal splicing play an important role in genetic disorders and cancer development. Among them, variants that cause formations of novel splice-sites (splice-site creating variants, SSCVs) are particularly difficult to identify and often overlooked in genomic studies. Additionally, these SSCVs, especially those found in deep intronic regions, are frequently considered promising candidates...

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Literature Corpus work: 8db06c67-1414-5353-90df-bf8159e39568
DOI: 10.1101/2024.02.21.581470

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