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Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping
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SYSNO ASEP 0333655 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping Author(s) Divina, Petr (UMG-J)
Kvitkovicova, Andrea (UMG-J)
Buratti, E. (IT)
Vorechovsky, I. (GB)Number of authors 4 Source Title European Journal of Human Genetics. - : Springer - ISSN 1018-4813
Roč. 17, č. 6 (2009), s. 759-765Number of pages 7 s. Language eng - English Country GB - United Kingdom Keywords mutation ; cryptic splice site ; exon skipping Subject RIV EB - Genetics ; Molecular Biology CEZ AV0Z50520514 - UMG-J (2005-2011) UT WOS 000266289100011 DOI 10.1038/ejhg.2008.257 Annotation Using a comprehensive collection of exons that sustained cryptic splice-site activation or were skipped as a result of splice-site mutations, we have developed a multivariate logistic discrimination procedure that distinguishes the two aberrant splicing outcomes from DNA sequences. The new algorithm was validated using an independent sample of exons and implemented as a free online utility termed CRYP-SKIP (http://www.dbass.org.uk/cryp-skip/). The web application provides a list of important predictor variables and their values, the overall probability of activating cryptic splice vs exon skipping, and the location and intrinsic strength of predicted cryptic splice sites in the input sequence. These results will facilitate phenotypic prediction of splicing mutations and provide further insights into splicing enhancer and silencer elements and their relative importance for splice-site selection in vivo. Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2010
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