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Advances in Bioinformatics
Volume 2016, Article ID 5614058, 10 pages
http://dx.doi.org/10.1155/2016/5614058
Research Article

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

Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand

Received 25 January 2016; Revised 28 April 2016; Accepted 4 May 2016

Academic Editor: Eitan Rubin

Copyright © 2016 Rongying Tang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

The Supplementary Table 1 lists the pathogenic mutations used for this study, whereas Table 2 lists the benign polymorphisms. All the sequence variants are provided with position, HGVS nomenclature and the gene involved. Prediction results from all four programmes using the optimal cut-off values determined from this study are provided.

  1. Supplementary Material