The objective ofthe newly-formed Joslin Advanced Genomics and Genetics Core (AGGC) is to provide support to Joslin and external investigators for the study of genome-based mechanisms of disease, by providing equipment, expertise, and services in nucleic acid analysis that would be too specialized or costly for individual laboratories to perform independently. The AGGC originates from the merging of the Joslin Genomics and Genetics Cores in response to the evolving scientific and technological landscape based on (1) the recognition that gene expression changes are mostly responsible for genetic predisposition to complex disorders and (2) the advent of new sequencing technologies providing a unified framework for DNA and RNA studies. The new Core will continue to provide the services previously offered by the two parent Cores, namely DNA extraction from blood, access to DNA collections from the Core's repository, SNP genotyping, and support for gene expression studies based on both high-density oligonucleotide arrays and real-time quantitative PCR. However, its defining objective will be to serve as an interface between Joslin investigators and next-generation sequencing by providing assistance with the complex protocols that must be accomplished in order to generate ready-to-sequence samples and which are often a barrier to sequencing approaches. Specifically, Core personnel will prepare sequencing libraries on behalf of Joslin investigators, will provide a next-generation sequencing service for projects requiring relatively low output, will facilitate investigators'access to external high-output next-generation sequencing platforms for larger projects, and will provide study design and analytical assistance in collaboration with the Boston University- Joslin Regional Computational (BUJRC) Core. Availability of these novel services will facilitate the ongoing transition of Joslin investigators to next-generation genomic methodologies, enhancing their productivity and increasing the cost-effectiveness of their research.
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