Searching journal content for articles similar to Ke et al. 28 (1): 11.

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  1. Research: Pathogenicity and selective constraint on variation near splice sites
    • Jenny Lord,
    • Giuseppe Gallone,
    • Patrick J. Short,
    • Jeremy F. McRae,
    • Holly Ironfield,
    • Elizabeth H. Wynn,
    • Sebastian S. Gerety,
    • Liu He,
    • Bronwyn Kerr,
    • Diana S. Johnson,
    • Emma McCann,
    • Esther Kinning,
    • Frances Flinter,
    • I. Karen Temple,
    • Jill Clayton-Smith,
    • Meriel McEntagart,
    • Sally Ann Lynch,
    • Shelagh Joss,
    • Sofia Douzgou,
    • Tabib Dabir,
    • Virginia Clowes,
    • Vivienne P.M. McConnell,
    • Wayne Lam,
    • Caroline F. Wright,
    • David R. FitzPatrick,
    • Helen V. Firth,
    • Jeffrey C. Barrett,
    • Matthew E. Hurles,
    • and on behalf of the Deciphering Developmental Disorders study
    Genome Res. February 2019 29: 159-170; Published in Advance December 26, 2018, doi:10.1101/gr.238444.118
    ...Developmental Disorders (DDD) project (Wright et al. 2015) and more than 60,000 aggregated exomes from the Exome Aggregation Consortium (ExAC) (Lek et al. 2016), we explore selective constraint around splice regions across a set of 148,244 stringently defined exons well covered (median coverage >15× at both...
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  2. Method: Quantitative evaluation of all hexamers as exonic splicing elements
    • Shengdong Ke,
    • Shulian Shang,
    • Sergey M. Kalachikov,
    • Irina Morozova,
    • Lin Yu,
    • James J. Russo,
    • Jingyue Ju,
    • and Lawrence A. Chasin
    Genome Res. August 2011 21: 1360-1374; Published in Advance June 9, 2011, doi:10.1101/gr.119628.110
    ...on short RNA stretches known as exonic and intronic splicing enhancers (ESEs and ISEs) and silencers (ESSs and ISSs). These so-called splicing regulatory motifs are manifold and, like their transcriptional counterparts, are thought to act in combination. Several different approaches have been used...
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