VariantClassifier is a software tool for hierarchically classifying variants based on the genome annotation that is provided. Instead of looking at a region of the genome and seeing all the features relative to each other on the genomic axis, the VariantClassifier inverts the process so that novel variants can be tested for interest, based on the known features on the genomic axis. Furthermore, our hierarchical classification provides a prioritization of the variants that should be considered for more intensive study.
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Kelvin Li and Timothy B Stockwell
VariantClassifier: A hierarchical variant classifier for annotated genomes
BMC Research Notes 2010, 3:191doi:10.1186/1756-0500-3-191