Article

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences

2024-03-25

Abstract excerpt

Alternative splicing plays a crucial role in protein diversity and gene expression regulation in higher eukaryotes and mutations causing dysregulated splicing underlie a range of genetic diseases. Computational prediction of alternative splicing from genomic sequences not only provides insight into gene-regulatory mechanisms but also helps identify disease-causing mutations and drug targets. However, the current m...

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Literature Corpus work: de7432a4-403b-50f2-9405-a12b5229f414
DOI: 10.1101/2024.03.22.586363

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