Clinical Research Genotyping Core Facility

Ming Qi, Ph.D., FACMG, DipABMG

The Division of Genomic Medicine (DGM) is a part of the University of Rochester Functional Genomics Center (FGC). It is part of Pathology Laboratory to facilitate serving the broadest range of clinical trials including drug trials. The DGM is a comprehensive scientific, clinical and technological program created to serve the University of Rochester scientific community in addition to outside academic and industrial entities interested in advancing biological and medical discovery using high-throughput genomics based technologies.The mission of the DGM is twofold:

  1. To provide core services including, and not limited to, high-throughput technologies in the following areas: mutation analysis technologies (scanning/detecting by denaturing high performance pressure chromatography, LightCycler, etc.); genotyping; DNA banking; patient cell-line establishment; and genetic linkage analysis services to all members of the scientific community.
  2. To provide consultation and interpretation to integrate genomics based technologies with research needs and questions in basic and clinical biomedical science.

Examples of Proposed Services Available Through the DGM

Mutation analysis:

  • Scanning for unknown mutations by DHPLC and sequencing
  • Detection of known mutations (LightCycler, TaqMan or sequencing)
  • High throughput SNP detection
  • Customized genotyping
  • Patient DNA banking
  • Patient cell-line establishment
  • Genetic linkage analysis
  • Confirming candidate gene
  • Collaborative studies with China are available

We have experience in providing these services for a number of research projects here at the University of Rochester, including genotyping for cardiac arrhythmias (Long QT syndrome, Brugada syndrome, and Andersen syndrome, etc.), and neuromuscular channelopathies (Periodic Paralyses, Myotonias, Episodic Ataxias). Additional areas under development include testing for Malignant Hyperthemia syndrome and inherited eye diseases.

Any questions or comments can be directed to Dr. Ming Qi.