The Eastern Sequence and Informatics Hub (EASIH)

The development of even faster and less expensive ways of decoding genetic material and information, so called high throughput sequencing (HTS). HTS is transforming our understanding of how organisms work, from bacteria to humans, and how certain diseases are strongly inherited. Only a few years ago, an international consortium was able to produce a first draft of the human genome sequence after many years of effort, but now it will be possible for the proposed sequencing facility in Cambridge, the Eastern Sequence and Informatics Hub (EASIH), to resequence 100 human genomes in a year. EASIH is a consortium of collaborators from three leading academic research institutions in the Cambridge region: the University of Cambridge, the European Bioinformatics Institute and the Babraham Institute, working together with the National Institute for Health Research Cambridge Comprehensive Biomedical Research Centre. The main HTS facility of EASIH will be housed in the Department of Medical Genetics in the newly-opened Addenbrooke?s Treatment Centre in the centre of the Cambridge Biomedical Campus. These four organisations have put together over #4.6M worth of funding and resources towards establishment and operation of EASIH, underpinning a bid to the MRC for a further #2.6M. We will be providing sequencing services to over 100 researchers in 16 different institutions within the Eastern region and beyond, within the context of a sustainable business plan. Our technologies and approaches, in collaboration with several biotechnology companies, in particular, Applied Biosystems and Roche-454, will help the NHS in tissue typing, which is an essential part of transplantation of stem cells, and in NHS clinical genetics services in the diagnosis of inherited diseases such as breast cancer. EASIH will be collaborating with the NHS National Blood Service (Colindale, London), the NHS Blood and Transplant Centre (Cambridge), and the NHS East Anglian Medical Genetics Service and Tissue Typing Laboratory in Cambridge to achieve these aims that will hopefully bring benefits directly to patients in the future. We will co-ordinate with the other MRC sequencing Hubs across the UK to work together on matters of national and international importance in the life sciences and in the diagnosis and treatment of disease, as well as seeking further economies of scale and synergies in this rapidly moving field.

The Eastern Sequence and Informatics Hub (EASIH) will deliver the key elements required of a world-leading high-throughput sequencing (HTS) facility:

a) Substantial commitment of resources from leading academic institutes. The University of Cambridge, European Bioinformatics Institute (EBI), Babraham Institute-Centre for Trophoblastic Research and NIHR Cambridge Biomedical Research Centre will work together and commit over #4.6M of resources to the Hub?s establishment.

b) State-of-the-art technology acquired at highly competitive cost, in the context of major collaborative research and early access agreements with Roche-454 and Applied Biosystems.

c) High-level bioinformatic, statistical and data storage capacity and expertise: EBI is a principle partner; we have close relations with the Wellcome Trust Sanger Institute, BBSRC Genome Analysis Centre, MRC Biostatistics Unit, and CRUK Cancer Research Institute.

d) A substantial body of users and collaborators engaged in internationally-leading research: over 100 PIs from 16 institutes/units funded by the MRC, several Universities, BBSRC, Wellcome Trust, CRUK and NHS.

e) A physical location that fosters close and frequent interactions between users with the core laboratory and bioinformatic staff, including training facilities. EASIH is founded on eight instruments producing at least 3,600 Gbases/yr, embedded in existing core genomics facilities for validation and follow up studies.

f) An operational and scientific management structure (Management Committee and Scientific Advisory Board) that ensures prioritisation of projects on the basis of scientific excellence and the rapid, cost-effective delivery of high quality data and analyses, and regular Users Group meetings to present results and discuss developments.

g) A business model that ensures long-term sustainability. Our five-year business plan allows for growth, replacement and progression to third generation HTS. We have allocated currently available space on-site for EASIH expansion, as we anticipate that not all Hub applications will be funded and users will have to be re-aligned to the successful bids.

h) A research development and strategic aim to apply HTS to NHS Clinical Genetics, in particular in HLA typing in transplantation and cord blood stem cells, prenatal diagnosis, and resequencing of disease genes (e.g. BRCA genes) in collaboration with the National Blood Service and Regional Clinical Genetics Services. Our facility will adhere to GLP/ISO requirements.

i) We propose formation of a Consortium of Hubs. Such a Consortium would facilitate scientific and technical cooperation between Hubs, encourage economies of scale (including software and data storage), and catalyse the tackling of major scientific questions requiring the power of a nationally co-ordinated network.