Speed Up Diagnosis
Prioritises genetic mutations in patients based on their phenotypes described using the Human Phenotype Ontology.
Multiple Analysis Tools
Exomiser, PubmedScore, Phenogenon, SimReg, Bevimed and SKAT score genetic variants and phenotypes.
Gene-Phenotype Relations
Using the gene or phenotype view, understand the spectrum of phenotypes that gene mutations lead to.
Phenopolis Statistics
Phenopolis includes data from over 8,000 exomes representing over 8,000,000 variants.
Contact Us
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