Splicing in disease: disruption of the splicing code and the decoding machinery

By Guey-Shin Wang, T. Cooper. Nature reviews genetics, 2007

1,083 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/d3a725348ddcbcc77196f5ef569782a5ab25d923

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Citations in the corpus

RNA sequencing: advances, challenges and opportunities (2010, background): “Characterization of alternative splicing patterns Given the importance of alternative splicing patterns in development and the fact that 15–60% of known disease-causing mutations affect splicin”
rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data (2014, background): “Changes in alternative splicing underlie gene regulation in diverse biological and disease processes (5 – 7).”
The spliceosome: design principles of a dynamic RNP machine. (2009, background): “Understanding regulated splicing is of prime medical relevance, as many human genetic diseases are associated with aberrant pre-mRNA splicing (Nissim-Rafinia and Kerem, 2005; Wang and Cooper, 2007) (see Review by T.A. Cooper, L. Wan, and G. Dreyfuss on page 777 of this issue).”
In silico prediction of splice-altering single nucleotide variants in the human genome (2014, background): “Since pre-mRNA splicing was first discovered in the 1970s (1,2), DNA variations that disrupt normal splicing have been linked to human genetic diseases (3,4,5).”
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (2011, positive): “Second, absence of functional information is actually beneficial when that information is misleading; this may occur, for example, when a non-synonymous variant appears to be benign at the amino acid level but has a deleterious effect on splicing 73 .”
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics (2020, background): “In the context of Mendelian diseases, estimates vary widely on the contribution of variants that affect splicing to the overall mutation pool (15–60% of disease-causing variants) [12].”
RNA-Seq methods for transcriptome analysis (2016, background): “AS plays an important role in regulation of cellular processes, and aberrations of the process are associated with many human diseases.(59) Some RNA-Seq reads cover exon-exon junctions, providing direct evidence of AS.”