Genotyping Core was established as a core facility for investigators at University of Cincinnati and UC Medical Center by providing large-scale high-throughput genotyping service at cost. This facility is designed and put together with three objectives: (1) to help the researchers and clinicians at UC Medical Center to conduct genetic studies of various diseases; (2) to generate high quality genotyping data efficiently and less expensively by taking advantage of automation and laboratory information management system; (3) to integrate with the expertise of bioinformatics, statistical genetics, and genetic epidemiology in developing study designs and data intepretation.

Service: The genotyping service is provided either through a contract at cost or through the collaboration with Dr. Li Jin, Dr. Ranjan Deka, and Dr. Chakraborty. In the latter case, the outside funding will be pursued through the collaboration. A minimum sample size is required to fit the automated high-throughput set up. The Core is also interested in helping the collaborators and researchers in generating preliminary results for their grant proposals with relatively small samples.

Throughput: The current throughput of the Core is about 5,000 genotypes per day for microsatellite loci and 50,000 genotypes per day for SNP markers (estimated). This capability is expected to be doubled if needed.

Equipment: Two ABI3100 Genetic Analyzers are currently used for microsatellite genotyping and a ABI7900HT Sequence Detection System with automation accessory is used for genotyping SNPs using various technologies including melting curve analyses, Taqman assay, and Invader technology. The liquid handling is being done by using either Hydra Microdispenser (Robbins Scientific) or Biomek FX Laboratory Workstation (Beckman).

QA/QC: Quality assurance and quality control of the genotyping procedures are always important in ensuring the quality of the data in this laboratory. Very stringent QA/QC procedures have been implemented and quality of all the data is being monitored closely by using two internal controls for each plate and 5-10% blind-duplicated samples. The procedures, where any form of subjectivity is required, are done by two specialists independently.

Data Analysis Support: The Center for Genome Information provides a strong support to the statistical analyses of the genotyping data generated by the Core.