Spliceman2: a computational web server that predicts defects in pre-mRNA splicing.

ABSTRACT:

Summary

Most pre-mRNA transcripts in eukaryotic cells must undergo splicing to remove introns and join exons, and splicing elements present a large mutational target for disease-causing mutations. Splicing elements are strongly position dependent with respect to the transcript annotations. In 2012, we presented Spliceman, an online tool that used positional dependence to predict how likely distant mutations around annotated splice sites were to disrupt splicing. Here, we present an improved version of the previous tool that will be more useful for predicting the likelihood of splicing mutations. We have added industry-standard input options (i.e. Spliceman now accepts variant call format files), which allow much larger inputs than previously available. The tool also can visualize t

SUBMITTER: Cygan KJ 

PROVIDER: S-EPMC5870721 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature