VariantClassifier

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Application data

Biological application domain(s) SNP
Principal bioinformatics method(s) SNP annotation
Created at JCVI
Maintained? Maybe
Contact: kli@jcvi.org

Summary: The 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 prioritisation of the variants that should be considered for more intensive study.

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Description

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References

  1. . 2010. BMC Res Notes


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