A centralized platform for validation of genomic and epigenomic targets from clinical and non-clinical studies. (360G-Wellcome-099148_Z_12_Z)

Over 1000 associations have recently been identified in over 100 traits and common human diseases using GWAS/EWAS. To further advance this research towards identification of the underlying causal variations for therapeutic targeting, requires follow-up on several levels. In the first instance, the identified associations need to be validated, ideally by an independent method and in additional samples. Secondly, the haplotypes, hepitypes and other genomic intervals in which the associations were found need to be further analysed for functional variations in as many samples as possible. The main objective, therefore, is to establish a centralized high-throughput facility for validation and targeted functional analysis that is directly compatible with next-generation sequencing, the method of choice for downstream processes. We believe that the requested equipment from RainDance Technologies satisfies all the technical requirements for accuracy, sensitivity and specificity. It also curre ntly offers best value with respect to throughput, flexibility and future integration with GCLP settings which is a requirement for clinical and future personalized medicine programmes. Under the guidance of the lead applicant, the experienced UCL Core Facility (UCL Genomics) will operate and maintain the equipment ensuring fair access to the 20 named co-applicants and collaborators and beyond if capacity allows.