Human Phenotype Ontology

Exomiser published

Nature Protocols Article

Together with Damian Smedley and Jules Jacobson from the Sanger Institute (UK), a group from Toronto (Canada), and members of the Monarch Initiative we have published an article about Exomiser in Nature Protocols. It is a software for phenotype-driven analysis of next-generation sequencing results that enables very efficient identification of disease relevant genomic variations.