Research and development activities are focused on human genome variation and disease with a core interest in knowledge management to bridge research and healthcare via data science tools and methods. Recent outputs include: the GA4GH/IRDiRC standard ‘ADA-M’ and ‘Beacon’; the GWAS Central database; and the ‘Café Variome’ discovery platform. Previously breakthroughs include unveiling the ‘TUF’ phenomenon (non-denaturing genomic DNA sequences); discovery of several disease genes (e.g. PSEN1 in Alzheimer’s Disease); inventing the ‘DASH’ method for reading DNA sequences by dynamic hybridisation; and the ‘Megaplex-PCR’ and hybridisation-enrichment technologies.
Previously launched two bioscience SMEs and currently funded via a range of EU IMI and national consortia projects.
In the University of Leicester in 2004 I have responsibilities as Director of the ‘NUCLEUS’ Genomics Services facility and Associate Director of the Midlands Substantive Site for the Health Data Research UK institute (HDR-UK).
• Developing new tools and strategies (Café Variome LEHMR RD-NEXUS PaR-RaDiGM) to facilitate accurate and responsible ‘discovery’ of data samples and patients of interest when such data cannot be openly exposed (e.g. private data sensitive commercial data unpublished information). Particular use cases being explored include diagnostics and research pertaining to Rare Disease connecting biobank datasets cohort creation for clinical trials and pre-competitive collaboration between pharmaceutical companies. This is applied in EU/IMI projects EJP-RD Sole-RD and EPND.
• Metadata-level representation of Leicester-wide research and healthcare datasets cohorts and studies supported via a user friendly discovery interface (LEHMR). Increasingly via our HDR-UK moving this platform towards record-level discovery and support for patient-finding for clinical trials.
• Running the world’s largest open access Genome Wide Association Study database ‘GWAS Central’ which provides a centralized compilation of summary-level findings from all published genetic association studies both large and small.
Analyt Biochem (2021) 626, 114124 doi: https://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
- 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 -
- EJP-RD ‘Champion’ for p