Article
Functional implications of splicing polymorphisms in the human genome.
Human molecular genetics - 1 Sept 2013
Kurmangaliyev Yerbol Z, Sutormin Roman A, Naumenko Sergey A, Bazykin Georgii A, Gelfand Mikhail S
Abstract excerpt
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...
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