Article

Computational prediction of human deep intronic variation

2023-02-17

Abstract excerpt

The adoption of whole genome sequencing in genetic screens has facilitated the detection of genetic variation in the intronic regions of genes, far from annotated splice sites. However, selecting an appropriate computational tool to differentiate functionally relevant genetic variants from those with no effect is challenging, particularly for deep intronic regions where independent benchmarks are scarce. In this s...

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Literature Corpus work: 22af6b4c-4f94-5b2b-b289-033193c97d27
DOI: 10.1101/2023.02.17.528928

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