Počet záznamů: 1
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping
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SYSNO ASEP 0333655 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping Tvůrce(i) Divina, Petr (UMG-J)
Kvitkovicova, Andrea (UMG-J)
Buratti, E. (IT)
Vorechovsky, I. (GB)Celkový počet autorů 4 Zdroj.dok. European Journal of Human Genetics. - : Springer - ISSN 1018-4813
Roč. 17, č. 6 (2009), s. 759-765Poč.str. 7 s. Jazyk dok. eng - angličtina Země vyd. GB - Velká Británie Klíč. slova mutation ; cryptic splice site ; exon skipping Vědní obor RIV EB - Genetika a molekulární biologie CEZ AV0Z50520514 - UMG-J (2005-2011) UT WOS 000266289100011 DOI 10.1038/ejhg.2008.257 Anotace 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. Pracoviště Ústav molekulární genetiky Kontakt Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Rok sběru 2010
Počet záznamů: 1