Dr. Julia Foreman

Julia is the DECIPHER Project Leader at the European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI). DECIPHER is an international web-based platform that shares rare disease phenotype-linked variant data. It also provides dynamic variant interpretation interfaces which contextualise genomic and phenotypic data, to enable more informed variant classification. By capturing both patient-level genotype and associated phenotypes at scale, DECIPHER enables new disease genes and mechanisms to be discovered and research findings to be translated into clinically actionable decisions.

Julia is committed to open data, in particular sharing data to facilitate the transfer of research knowledge into the clinical arena, to facilitate discovery and enable diagnosis. She actively engages in communicating methods for variant classification, encouraging the uptake of international standards. Julia co-chairs the Atlas of Variant Effects Data Coordination and Dissemination workstream, which is focussed on the dissemination of variant effect maps, and is a member of the Matchmaker Exchange Steering Committee.