SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.

ABSTRACT: SpliceAI is an open-source deep learning splicing prediction algorithm that has demonstrated in the past few years its high ability to predict splicing defects caused by DNA variations. However, its outputs present several drawbacks: (1) although the numerical values are very convenient for batch filtering, their precise interpretation can be difficult, (2) the outputs are delta scores which can sometimes mask a severe consequence, and (3) complex delins are most often not handled. We present here SpliceAI-visual, a free online tool based on the SpliceAI algorithm, and show how it complements the traditional SpliceAI analysis. First, SpliceAI-visual manipulates raw scores and not delta scores, as the latter can be misleading in certain circumstances. Second, the outcome of SpliceAI-visual

SUBMITTER: de Sainte Agathe JM 

PROVIDER: S-EPMC9912651 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature