Â鶹ÊÓƵ

Our research and development program is focused on data sharing and data management technologies in the context of biomedicine. In particular, we innovate and provide solutions (software tools and standards) that bridge research and healthcare, to maximise the value and (re)use of diverse, distributed and complex datasets. An emphasis is placed on federated systems, interoperability standards, asset findability, and responsible practice. Recent outputs include: data standards ‘ADA-M’, ‘Beacon’ and ‘DUC/CCE’ devised with/for international bodies such as GA4GH, IRDiRC, BBMRI; the universal ‘Café Variome’ discovery platform; and the IHI/EPND data/sample catalogue plus data sharing infrastructure for neuroscience and dementia, created with Gates Ventures. Previously breakthroughs include unveiling the ‘TUF’ phenomenon (non-denaturing genomic DNA sequences); discovery of several disease genes (e.g., PSEN1 in Alzheimer’s Disease); developing the ‘DASH’ method for reading DNA sequences by dynamic hybridisation; and other inventing various new methods (‘Coincident Sequence Cloning’, ‘MegaPlex PCR’, ‘DattArrays’, ‘nucleic acid probes and hybridisation’). The group has previously launched two bioscience SMEs and is currently funded as part of several UK, EU, and IMI/IHI consortia projects.

Developing new tools and strategies, not least Café Variome, LEHMR, RD-NEXUS, EPND Technical Hub, and data standards (‘ADA-M’, ‘Beacon’ and ‘DUC/CCE’) to facilitate accurate and responsible ‘discovery’ and sharing of data, samples and patients when such assets cannot be openly exposed (e.g., due to private, sensitive, commercial or unpublished information). Particular use cases being worked on include diagnostics and research information pertaining to Rare Disease networks, and large-scale federation of catalogues and cohorts for the dementia field with pharmaceutical companies.

215 publications; >43,000 citations; h-index 71 (Google Scholar)  

• Nature Med, 31, 1384–1385 (2025). doi.org/10.1038/s41591-025-03632-8. Harnessing Artificial Intelligence to Transform Alzheimer's Research.

• Nat Med, 31, 478–489 (2025). doi.org/10.1038/s41591-024-03420-w. Genomic Reanalysis of a Pan-European Rare Disease Resource Yields New Diagnoses.

• GigaScience, 13, giae058 (2024). doi.org/10.1093/gigascience/giae058. An Interconnected Data Infrastructure To Support Large-Scale Rare Disease Research.

• Scientific Data, 11, #464 (2024). doi.org/10.1038/s41597-024-03280-6. Getting Your DUCs In A Row - Standardising The Representation Of Digital Use Conditions.

• Scientific Data, 11, #465 (2024). doi.org/10.1038/s41597-024-03279-z. Common Conditions Of Use Elements. Atomic Concepts For Consistent And Effective Information Governance.

• JPAD, 11, 329–338 (2024). doi.org/10.14283/jpad.2024.32. Validation, Deployment, And Real-World Implementation Of A Modular Toolbox For Alzheimer’s Disease Detection And Dementia Risk Reduction: The AD-RIDDLE Project.

• PLoS Comput Biol, 20(3), e1011817 (2024). doi.org/10.1371/journal.pcbi.1011817. Twelve Quick Tips for Deploying a Beacon. • Front Neurol, 14:1187095 (2023). doi.org/10.3389/fneur.2023.1187095. Data Sharing in Neurodegenerative Disease Research: Challenges and Learnings from the Innovative Medicines Initiative (IMI) Public-Private Partnership Model.

• Front Neurol, 13, 1031091 (2022). doi.org/10.3389/fneur.2022.1031091. Data And Sample Sharing As An Enabler For Large-Scale Biomarker Research And Development: The EPND Perspective.

• Hum Mut, 1-9 (2022). doi.org/10.1002/humu.24369. Beacon v2 and Beacon Networks: A Lingua Franca for Federated Data Discovery in Biomedical Genomics, and Beyond.

• Eur J Hum Genet, 29(9), 1325-1331 (2021). doi.org/10.1038/s41431-021-00859-0. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.

• Analyt Biochem, 626, 114124 (2021). doi.org/10.1016/j.ab.2021.114124. Array-based Dynamic Allele Specific Hybridization (Array-DASH): optimization-free microarray processing for multiple simultaneous genomic assays.

• NPJ Genom Med. (2018) 3(17), 1-6 [doi: 10.1038/s41525-018-0057-4]. Responsible Sharing of Biomedical Data and Biospecimens via the 'Automatable Discovery and Access Matrix' (ADA-M).

• Nature Scientific Data (2016) 15;3, 160018  [doi: 10.1038/sdata.2016.18]. The FAIR Guiding Principles For Scientific Data Management And Stewardship.

• Human Mutation (2015) 36, 957-964  [doi: 10.1002/humu.22841]. Cafe Variome: General-Purpose Software For Making Genotype-Phenotype Data Discoverable In Restricted Or Open Access Contexts.

• Nature Reviews Genetics (2015) 16, 702-715 [doi: 10.1038/nrg3932]. Human Genotype-Phenotype Databases: Aims, Challenges And Opportunities.

• Eur. J. Hum. Genet (2014) 22, 949-952 [doi: 10.1038/ejhg.2013.274]. GWAS Central: A Comprehensive Resource For The Comparison And Interrogation Of Genome-Wide Association Studies.

• BMC Genomics (2012) 13, 455 [doi:10.1186/1471-2164-13-455]. A Mechanistic Basis For Amplification Differences Between Samples And Between Genome Regions.

• Nature Genetics (2004) 36, 861-866 [doi: 10.1038/ng1401]. Complex SNP-Related Sequence Variation In Segmental Genome Duplications.

• Nature Biotech (1999) 17, 87-88 [doi: 10.1038/5270]. Dynamic Allele-Specific Hybridisation: A New Method for Scoring Single Nucleotide Polymorphisms.

• Nature (1995) 375, 754-760 [doi: 10.1038/375754a0]. Cloning of a Gene Bearing Missense Mutations in Early-Onset Familial Alzheimer's Disease

• SAB for LifeArc Translational Centres for Rare Disease, 2024-
• Member of Midlands Health Data Strategy Board, 2024-
• Member of HUGO Executive Board, 2021-2023
• Member of EU NEURONET Working Group on ‘Data sharing and re-use’, 2020-2022
• Member of the HDR-UK Technical Team, 2019-2022
• ERDERA ‘Champion’ for project collaboration with GA4GH, 2024-
• Leadership Team for HDR-UK Midlands Substantive Site 2018
• Colead of GA4GH Task Team ‘Beacon’, 2014-
• Member of the IRDiRC Diagnostics Scientific Committee, 2016-2022
• Co-Chair of BBMRI.uk Committee for IT Common Service & BBMRI Catalogue, 2015-
• Member of HUGO Executive Board 2021 -
• Member of EU NEURONET Working Group on ‘Data sharing and re-use’ 2020 -
• Member of the HDR UK Technical Team 2019 -
• UK representative on Governing Board of EJP-RD 2019 -