Current Projects

My work is built around a simple belief: human genomic data only creates value when people can trust it, understand it, reuse it, and equally benefit from it. A genome sitting unused in an archive helps no one. So my teams and I build and steward the archives, tools, standards, and knowledge bases that let researchers and clinicians responsibly reuse human genomic and phenotypic data — open where we can be, controlled where we must be.

My long-term goal is for these resources to be trusted, FAIR, AI-ready, and equitable infrastructure that connects research knowledge to real advancements in genomic health — including for diagnosis, treatment, disease prevention — and not only for the world’s best-resourced populations. That means investing as much in governance, interoperability, and global partnership as in the underlying data and services.

None of this is a solo effort. Everything we build is maintained by teams and communities far larger than any one person.

EMBL-EBI Services

DECIPHER | DECIPHER helps the clinical genetics community share and compare genome variants and phenotypes across tens of thousands of patients worldwide, aggregating disease-association evidence and tools to support diagnosis of rare genetic conditions. It’s one of the human variation interpretation services my team is responsible for at EMBL-EBI.

Ensembl | Ensembl is a public, open genome browser that provides high-quality, consistent annotation across genomes from thousands of species, providing information about genes, comparative genomics, regulation, and more. I lead the team responsible for the variation resources: the data and tools (including the Ensembl Variant Effect Predictor) that let researchers explore how genomes differ between individuals and what that means for disease and phenotypes.

European Genome-phenome Archive (EGA) | EGA permanently archives and securely shares personally identifiable human genetic, phenotypic, and clinical data from biomedical research and research-focused healthcare programs. I previously led the archiving of nearly 20PB of UK Biobank sequencing data at EGA. In 2022 we launched the Federated EGA Network, which extends discovery and access across a network of national and institutional EGA nodes in Europe and beyond.

Gene2Phenotype (G2P) | G2P is a curated, evidence-based database of gene-disease associations. Each entry links a gene, an allelic requirement, and a mutational mechanism to a disease with a clear confidence level and cited evidence. G2P is built specifically to support diagnostic variant filtering in the clinic.

International Genome Sample Resource (IGSR) | IGSR maintains and extends the legacy of the 1000 Genomes Project, the resource that created the largest public catalogue of human genetic variation. My team keeps this data usable against current reference genomes and works to expand the populations represented, since the original project didn’t capture the full breadth of human genetic diversity.

Standards & Community Leadership

Global Alliance for Genomics & Health (GA4GH) | GA4GH is an international alliance of 500+ organisations building technical standards and policy frameworks for responsible, secure genomic and health data sharing worldwide. EMBL-EBI is home to GA4GH’s Chief Product Officer and a core development team, working to support the responsible co-development, adoption, and implementation of GA4GH standards and policies across the globe.

Curious how these projects connect to the research literature? See my Publications and Other Research Outputs pages.