Research > Genomics
Core > Equipment and Facilities
Equipment and Facilities
 The Genomics Core contains specialized equipment
intended to facilitate every phase of molecular biology, gene
mapping, expression, and analysis procedures. The centralization
of these services in the core is a cost-effective and comprehensive
means to provide advanced techniques, specialized services, technical
expertise, and reagents to investigators within the Thomas Jefferson
University campus.
In the area of SNP genotyping, the Core has introduced novel
technologies such as the Affymetrix 10K and 100K where 10,000
and 100,000 SNPs, respectively, are interrogated to analyze families
with inherited form of diseases. The study of a large pedigree
with a dominant form of cardiac disease is currently in progress.
Additional technologies recently introduced in the Genomics
Core include combinatorial sequencing-by-hybridization (cSBH)
and use of gold nanoparticle with Raman spectroscopy. cSBH is
an indirect sequencing method where two sets of universal short
probes are used to generate a complete sequence readout of a
template PCR product. We applied this method to resequence genomic
DNA from cell lines and patient samples with colorectal cancer
and neurofibromatosis type I. Results show this technology can
successfully detect a range of mutations within the APC and NF1
genes with 99.97% accuracy on a single slide. Using gold nanoparticle,
we have focused on development of a sensitive new array-based
assay for detection of SNPs, which should afford the ability
to measure genetic variation without the use of locus-specific
PCR.
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