Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

ABSTRACT: The increasing diagnostic use of gene sequencing has led to an expanding dataset of novel variants that lie within consensus splice junctions. The challenge for diagnostic laboratories is the evaluation of these variants in order to determine if they affect splicing or are merely benign. A common evaluation strategy is to use in silico analysis, and it is here that a number of programmes are available online; however, currently, there are no consensus guidelines on the selection of programmes or protocols to interpret the prediction results. Using a collection of 222 pathogenic mutations and 50 benign polymorphisms, we evaluated the sensitivity and specificity of four in silico programmes in predicting the effect of each variant on splicing. The programmes comprised Human Splice Finder (HS

SUBMITTER: Tang R 

PROVIDER: S-EPMC4894998 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature