Article

Improved detection of aberrant splicing using the Intron Jaccard Index

2023-04-03

Abstract excerpt

<h4>ABSTRACT</h4> Detection of aberrantly spliced genes is an important step in RNA-seq-based rare disease diagnostics. We recently developed FRASER, a denoising autoencoder-based method for aberrant splicing detection that outperformed alternative approaches. However, as FRASER’s three splice metrics are partially redundant and tend to be sensitive to sequencing depth, we introduce here a more robust intron excis...

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Literature Corpus work: 5d3a3f3a-aaa0-5f89-ab03-70aaba724111
DOI: 10.1101/2023.03.31.23287997

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