Genomic features defining exonic variants that modulate splicing |
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Authors: | Adam Woolfe James C Mullikin Laura Elnitski |
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Institution: | (1) Genomic Functional Analysis Section, National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland 20892, USA;(2) Comparative Genomics Unit, National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland 20892, USA |
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Abstract: | Background Single point mutations at both synonymous and non-synonymous positions within exons can have severe effects on gene function
through disruption of splicing. Predicting these mutations in silico purely from the genomic sequence is difficult due to an incomplete understanding of the multiple factors that may be responsible.
In addition, little is known about which computational prediction approaches, such as those involving exonic splicing enhancers
and exonic splicing silencers, are most informative. |
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Keywords: | |
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