Speakers

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 interpretation. 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 also involved with the Gene2Phenotype resource at EMBL-EBI, which curates gene/disease mechanism data and distributes these datasets to assist diagnostic variant filtering.

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 interpretation, encouraging the uptake of international standards. Julia is a member of the scientific programme committee for the Curating the Clinical Genome conference and Fundamentals of Variant Interpretation in Clinical Practice course and co-chair of the Atlas to Variant Effects Data Coordination and Dissemination workstream.