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 0 exomes (0 male, 0 female, and 0 unknown).
There is a total of 0 variants. 0 variants pass the GATK filter.
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