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