Functional implications of splicing polymorphisms in the human genome.

  title={Functional implications of splicing polymorphisms in the human genome.},
  author={Yerbol Z. Kurmangaliyev and Roman A. Sutormin and Sergey A. Naumenko and Georgii A. Bazykin and Mikhail S. Gelfand},
  journal={Human molecular genetics},
  volume={22 17},
Proper splicing is often crucial for gene functioning and its disruption may be strongly deleterious. Nevertheless, even the essential for splicing canonical dinucleotides of the splice sites are often polymorphic. Here, we use data from The 1000 Genomes Project to study single-nucleotide polymorphisms (SNPs) in the canonical dinucleotides. Splice sites carrying SNPs are enriched in weakly expressed genes and in rarely used alternative splice sites. Genes with disrupted splice sites tend to… CONTINUE READING
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