Phenopolis

An Open Platform for Harmonization & Analysis of Sequencing & Phenotype Data.


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Speed Up Genetic Diagnosis

Prioritises genetic mutations in patients based on their phenotypes described using the Human Phenotype Ontology.

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Multiple Analysis Tools

Exomiser, PubmedScore, Phenogenon, SimReg, Bevimed and SKAT score genetic variants and phenotypes.

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Discover Gene-Phenotype Relations

Using the gene or phenotype view you will be able to understand the spectrum of phenotypes that mutations in a given gene can lead to.

Phenopolis Statistics

Samples: There are 6053 exomes (776 male, 1125 female, and 4145 unknown).
There is a total of 3,813,475 variants. 2,975,765 variants pass the GATK filter.

Contact Us

Please feel free to contact us here to give us feedback or report any issues.