Computational prediction of human deep intronic variation.

ABSTRACT:

Background

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 discriminate functionally relevant genetic variants from those with no effect is challenging, particularly for deep intronic regions where independent benchmarks are scarce.

Results

In this study, we have provided an overview of the computational methods available and the extent to which they can be used to analyze deep intronic variation. We leveraged diverse datasets to extensively evaluate tool performance across different intronic regions, distinguishing between variants that are expected to disrupt splicing through different molec

SUBMITTER: Barbosa P 

PROVIDER: S-EPMC10599398 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature