Ontology highlight
ABSTRACT:
SUBMITTER: Kapustin Y
PROVIDER: S-EPMC3152350 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Kapustin Yuri Y Chan Elcie E Sarkar Rupa R Wong Frederick F Vorechovsky Igor I Winston Robert M RM Tatusova Tatiana T Dibb Nick J NJ
Nucleic acids research 20110405 14
We describe a new program called cryptic splice finder (CSF) that can reliably identify cryptic splice sites (css), so providing a useful tool to help investigate splicing mutations in genetic disease. We report that many css are not entirely dormant and are often already active at low levels in normal genes prior to their enhancement in genetic disease. We also report a fascinating correlation between the positions of css and introns, whereby css within the exons of one species frequently match ...[more]