Article

Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data

2021-10-07

Abstract excerpt

Many disease-associated genomic variants disrupt gene function through abnormal splicing. With the advancement of genomic medicine, identifying disease-associated splicing associated variants has become more important than ever. Most bioinformatics approaches to detect splicing associated variants require both genome and transcriptomic data. However, there are not many datasets where both of them are available. In...

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Literature Corpus work: 5b32fda5-10d3-54e3-b0fa-6916e6a84ee2
DOI: 10.1101/2021.10.05.463278

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