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Showing 1–3 of 3 results
Advanced filters: Author: Christy L. Rhine Clear advanced filters

  • Splicing is regulated by cis-acting elements in pre-mRNAs such as exonic or intronic splicing enhancers and silencers. Here the authors show that exonic splicing enhancers are enriched in exons compared to introns due to mutational bias coupled with purifying selection on the protein code.

    • Stephen Rong
    • Luke Buerer
    • William G. Fairbrother
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-10

  • Abnormal PR interval duration is associated with risk for atrial fibrillation and heart block. Here, van Setten et al. identify 44 PR interval loci in a genome-wide association study of over 92,000 individuals and find genetic overlap with QRS duration, heart rate and atrial fibrillation.

    • Jessica van Setten
    • Jennifer A. Brody
    • Nona Sotoodehnia
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-11

  • William Fairbrother and colleagues use a massively parallel splicing assay (MaPSy) to analyze 4,964 exonic, disease-causing mutations for splicing defects in vivo and in vitro. They find that 10% of these exonic mutations affect splicing, and they classify these alterations by the stage of spliceosome assembly that is disrupted.

    • Rachel Soemedi
    • Kamil J Cygan
    • William G Fairbrother
    Research
    Nature Genetics
    Volume: 49, P: 848-855