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Genomics Core Laboratory

The Genomics Core Facility carries out various types of analyses of RNA and DNA samples. These range from abundance measurements of mRNA species and basic capillary DNA sequencing to next-generation whole transcriptome and whole genome sequencing.

The Genomics Core Facility is the technological base for current and future approaches to the genetic basis of human disease, as well as providing a platform for approaching the complex cellular mechanisms underlying cancer and infectious disease. A central approach is the use of massive SNP analysis to provide a genome-wide fingerprint of natural variation in the genomes of individuals. Such genome fingerprints are currently used for genome wide association (GWAS) analysis, which is a powerful approach for identifying loci and genes that contribute causative risk factors for a disease. This has been especially productive in the study of diabetes, atherosclerosis, and age related macular degeneration of the eye.

Whole genome sequencing is currently being pursued by selectively sequencing roughly 2% of the genome, which contains nearly all mRNA and protein-coding regions of the genome. Such sequence typically identifies many gene mutations, and the challenge is to integrate this information in order to select those genes that cause the disease in question. We will soon have the capacity to sequence the entire genome without such pre-selection, which will further broaden the potential for discovery of disease causing mutations and gene variants. The SOLiD sequencer is currently the most accurate, and well suited to the identification of mutations caused by nucleotide substitutions. Whenever it is possible to isolate RNA from the tissue of interest in a disease, such as blood lymphocytes, a liver biopsy or a tumor, the whole genome sequencing approach can be applied to ask both whether the expression levels, mRNA processing and protein translation are abnormal for a given gene.

Looking forward, the laboratory will provide investigators support with cutting-edge genomic approaches to diabetes, infectious disease, cancer, neuropsychiatric, neurological, and visual disorders.