The Sequencing and Genotyping Core provides on-site nucleotide sequencing and genotyping services. Fluorescently-labeled MGB Eclipse and Taqman MGB probes are used to genotype a core panel of SNP markers implicated in the development of various autoimmune diseases. This technology is available to genotype any SNP of interest upon request.
Our high resolution HLA-DR4 typing takes advantage of a Taqman-based Q-PCR assay, developed at BRI by Vivian Gersuk. Additionally, HLA-DR1/3/5 can be resolved via sequence-based genotyping. High resolution HLA typing can be performed on BRI repository samples (for BRI researchers) or investigator-provided DNA samples by arrangement with individual researchers.
In addition, the facility has the capacity to mount SNP discovery investigations. Heteroduplex analysis by WAVE dHPLC followed by confirmatory sequencing is the method of choice for discovering novel variants for genes of interest. Projects are arranged with individual investigators.
Core resources include an ABI PRISM 3100 Genetic Analyzer, two Transgenomic WAVE System 4500HT dHPLCs, and a Beckman Coulter Biomek FX robotic workstation. The Biomek FX is available for a variety of large-scale projects including DNA and RNA preparation and manipulation.
Nucleotide sequencing services are available to all on-site BRI investigators. Genotyping services are available to on-site BRI investigators and external collaborators on a fee-for-service basis.