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SKIPPY | Genomic features defining exonic variants that modulate splicing

A tool for the detection of exonic variants that modulate splicing. SKIPPY allows users to input a set of exonic variants to score them for a number of features (such as changes in splicing regulatory elements) that have been shown to be predictive of known genome variations that cause exon skipping or activation of ectopic splice sites. In this way, variants can be either prioritized for further splicing-based functional analysis or the results can be used as further genomic evidence in cases in which the causative variant is already known.

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SKIPPY classification

SKIPPY specifications

Unique identifier:
OMICS_02258
Restrictions to use:
None
Computer skills:
Basic
Maintained:
Yes
Interface:
Web user interface
Input data:
The position of your exonic variants
Stability:
Stable

SKIPPY support

Maintainer

  • Adam Woolfe <>

Credits

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Publications

Institution(s)

Genomic Functional Analysis Section, National Human Genome Research Institute, National Institutes of Health, Chinakville, MD, USA; Comparative Genomics Unit, National Human Genome Research Institute, National Institutes of Health, Chinakville, MD, USA

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