CORE 6 - MOLECULAR PHENOTYPING AND GENOTYPING : ABSTRACT The objective of the Molecular Phenotyping and Genotyping Core is to support Joslin and external investigators in the study of molecular mechanisms of disease by providing equipment, expertise, and services in molecular phenotyping, including nucleic acid sequence analyses, gene expression, and other ?-omics? analyses, which would be too specialized or costly for individual laboratories to perform independently. Formerly known as the Advanced Genomics and Genetics Core, the Molecular Phenotyping Core is newly- named in recognition of the expansion of its analytical capacities to reflect not only genetic and genomic analyses but also metabolic phenotyping. The new Core will continue to provide the services previously offered, including: 1. DNA extraction from blood; 2. Curation of and maintenance of access to DNA collections from the Core's repository; 3. SNP genotyping; 4. Bioanalyzer analysis of DNA/RNA quality and quantity; 5. DNA shearing; 6. Preparation of next-generation sequencing libraries; 7. Facilitated access to external next- generation sequencing facilities; 8. Gene expression using microarrays (Affymetrix), including cRNA/cDNA preparation and hybridization; 9. Access to real-time quantitative PCR; 10. Assistance with study design and data analysis in collaboration with the Boston University-Joslin Regional Computational (BUJRC) Core;11. Educational services to facilitate the understanding and the use of next-gen and other -omics methodologies by the Joslin community. New services to enhance capacity for the study of molecular mechanisms of disease will include: 1. Genetic characterization for clinical studies (a next-gen sequencing assay developed by the core to simultaneously screen all known monogenic diabetes genes for mutations and to type all known SNPs associated with T1DM, T2DM, or diabetic complications) 2. Bioenergetics and metabolic phenotyping (analysis of metabolic flux using the Seahorse XF24 and XF96 instruments and facilitated access to metabolomics platforms). 3. Plasma proteomics (facilitated access to the Somalogic proteomic platform at BIDMC). 4. Digital genomics (through a new digital PCR platform that is being purchased by the Joslin for the digital detection of RNA, DNA, and noncoding RNA species). Training will be an important component of introduction of these services, so as to promote utilization of these approaches by investigators and trainees alike. Together, these new initiatives will facilitate the ongoing transition of Joslin investigators to state-of-the art phenotyping and genotyping that that are instrumental for both basic, translational, and clinical research studies.
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