Article
Computational analysis of splicing errors and mutations in human transcripts.
BMC genomics - 14 Jan 2008
Kurmangaliyev Yerbol Z, Gelfand Mikhail S
Abstract excerpt
BACKGROUND: Most retained introns found in human cDNAs generated by high-throughput sequencing projects seem to result from underspliced transcripts, and thus they capture intermediate steps of pre-mRNA splicing. On the other hand, mutations in splice sites cause exon skipping of the respective exon or activation of pre-existing cryptic sites. Both types of events reflect properties of the splicing mechanism....
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