University of Leicester (ULEIC), Leicester, United Kingdom

leicesterDescription of organization

The University of Leicester is in the world's top 200 (20th out of 117 in the UK), and a member of the '1994 Group' of research-intensive universities. Annual research income exceeds £41.5M, including >€12M of EC awards in FP6 and >€15M in FP7. The proposed project will be run from the Department of Genetics, part of the College of Medicine, Biological Sciences and Medicine. This Department is highly recognised internationally, and amongst its many breakthroughs is the discovery/invention of DNA fingerprinting. The department is also a Centre of Excellence for teaching and Learning (CETL) in genetics.


Previous experience

Of direct relevance to the current proposal, our teams co-ordinates a regional node of the UK Biobank, have an advanced 'Genomics Core' team (directed by Professor Brookes), and provides substantial computing facilities that include a large Linux cluster and multiple high-end servers. Most critically, the Department of Genetics is joining forces with biostatisticians from the Department of Health Sciences, plus world renowned cardiovascular and respiratory medicine groups at the adjacent Glenfield Hospital, to launch a new "Data to Knowledge to Practice" (D2K2P) Centre of Excellence. Professor Anthony Brookes and Professor Paul Burton will co-Direct the D2K2P, focussing purely on healthcare informatics exactly in line with this proposal, all housed in two floors of a dedicated new building sitting atop biobanking and clinical wards specialising in CVD and respiratory illness.


Profile of staff members

Professor Anthony J. Brookes will be the Project Coordinator for I-Health. He heads a Bioinformatics and Genomics group of 15 postdocs, with strengths in novel technologies for human genome variation data generation and management. Professor Brookes is a Founding Board Member of the Human Genome Variation Society (HGVS) and the Human Variome Project (HVP); is Chair of the Publications Committee for the HUGO Journal and Communicating Editor the Human Mutation journal; created the HGVbaseG2P gene-disease database; and has authored >140 peer-reviewed scientific articles. He also co-ordinates GEN2PHEN, a €12M genotype-phenotype database federation project, and is a WP leader in the FP7 BioSHaRE IP (biobanking integration) and the READNA IP (DNA analysis methods). Dr Tim Beck is a bioinformatician with several years working experience concerning disease/phenotype semantics and their use for data integration, and he will work on data aspects of the project. Dr Owen Lancaster is a bioinformatician with several years working experience concerning bioscience databasing, especially the diagnostic collection and use of Mendelian mutations, and he will work on databasing aspects of the project. Dr Sirisha Gollapi is a computer scientist with several years working experience in ICT systems, and she will work on technical aspects of the project.



University of Leicester



Recent publications relevant to the project

1 Dalgleish R, Flicek P, et al, Birney E, Brookes AJ and Maglott DR. Locus Reference Genomic (LRG) sequences: an improved basis for describing human DNA variants. 2010. Genome Medicine. 2, 24-30.


2 Thorisson GA, Muilu J and Brookes AJ. Genotype-Phenotype Databases: Challenges and Solutions for the Post-Genomic Era. 2009. Nature Reviews Genetics. 10, 9-18.


3 Brookes AJ, Lehvaslaiho H, et al. The Phenotype and Genotype Experiment Object Model (PaGE-OM): A Robust Data Structure for Information Related to DNA Variation. 2009. Human Mutation. 30, 968-977.


4 Patrinos GP and Brookes AJ. DNA, Diseases, and Databases: Disastrously Deficient. 2005. Trends Genetics. 21, 333-338.


5 Fredman D, Munns G, Rios D, Sjöholm F, Siegfried M, Lenhard B, Lehväslaiho H and Brookes AJ. HGVbase: A Curated Resource Describing Human DNA Variation and Phenotype Relationships. 2004. Nucleic Acids Res. 32, D516-D519.