Development of an Institute of Neurology Next Generation Sequencing Facility Equipment Grant. (360G-Wellcome-093205_Z_10_Z)

In the past the search for disease causing mutations and genetic risk has mainly been limited by the technical feasibility. The development of next generation sequencing (NGS) has given geneticists the route towards the complete examination of these factors. We have to take advantage of this technology, and apply it to neurological disorders as a core resource at the Institute of Neurology (ION). This proposal is for an Illumina GAIIe next generation sequencer with data storage and a dedicate d technician. We already have experience with Illumina sequencing and have obtained high quality pilot data. At the ION we are in a strong position to exploit NGS technology having some of the largest, most accurately phenotyped, neurological disease patient cohorts in the world. Over the last 10 years ION has been at the forefront of neurogenetics research, identifying disease genes and genetic risk factors. Furthermore, we have directed or been collaborators on the majority of genome wide asso ciation studies (GWAS) in neurological disorders. To take full advantage of this patient resource NGS will be critical in the identification of the actual disease-causing variants. The key objective of this proposal is to develop NGS as a core resource to investigate neurological disorders.