Determining Splicing Signal Variation in Humans by Analyzing the Regulatory Splicing Motifs

The project's aim was to generate a method for determining the changes that unfold in the regulatory splicing signals when a genetic variation occurs in a human DNA sequence. Different motifs and scores, available in the literature, were used in order to compute two values that represent the variation in splicing enhancer and splicing silencer signals. The computed values offered only directional information about signals. With a few exceptions, the computed results matched the splicing phenotype associated with the genetic variants found in the test dataset. The signal variations have been successfully determined and the general direction corresponds with the direction indicated by methods and tools found in the literature. The method provides an overview of the changes in splicing regulatory signals that can benefit researchers and medical personnel in prioritization of genetic variants.