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About Phenoxome

Phenoxome is a web-based tool developed at the Children's Hospital of Philadelphia. It prioritizes candidate variants based upon the hypothesis that rare and deleterious variants in the genes known to be associated with the patient's phenotypes are more likely to be disease-causing in the clinical WES/WGS practices.

Phenotypes:


Sample Label (Optional):


Variants Callset: VCF (Optional)

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Select Population Allele Frequency Cutoff from gnomAD for Variant Filtration (Optional: default 0.5%)




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