Validation of bioinformatics software

Exomiser and many other software packages for genomic diagnostics user Phenopackets as input files. Developers of such software can use phenopackets from Phenopacket Store to test new algorithms. PheVal is designed to take phenopackets as input to test software for diagnostic genomics.

For special use cases, Phenoboard can be used to rapidly create specific phenopackets needed for testing or validation of software.