Research Informatics



PEDIGENE®, a flexible, integrated system for managing large databases containing clinical, pedigree, molecular, and DNA sample data, is a CTSA-affiliated core. It is an internationally acclaimed computer data management system designed and licensed by Duke.  PEDIGENE® uses multi-layered security levels to ensure participant confidentiality through all phases of a family and population study including: 

  • Clinical diagnostic information
  • Environmental risk factor information
  • Sample collection and storage
  • Family history and other vital statistics
  • Genetic marker and genotype information following DNA typing
  • Blood and tissue biomarkers (single assay or high throughput)
  • Genomics results including gene expression, methylation, and sequencing
  • Metabolomics
  • Catalogues of analytical results

This reliable system greatly facilitates data analysis, easily handling the vast amount of information generated during each ‘omic study. PEDIGENE® has already played a key role in localizing or mapping more than 50 genes involved in diseases. Database security and limited access is a key feature of PEDIGENE® with study information available only to the PIs and specific personnel designated by them, with access further restricted by role in the study.  A complete description of the security features of PEDIGENE® for inclusion in proposals and regulatory applications is available by request.

PEDIGENE® has been adapted to house massive and detailed information: clinical information, marker information, and genotypes for a large number of genetic markers on samples of thousands of families and tens of thousands of individuals. The PEDIGENE® system stores family history information on more than 500,000 individuals and 6,000 families. Information is stored on nearly 100,000 DNA samples, 460,000 metabolite results, and billions of genotypes. In the course of collaborative studies we have developed methods for secure access to our database and software for collaborators outside the Duke DMPI. Thus, we have experience in distributing data to and accepting data from a wide variety of data types, sources, and formats. We have recently included database modules for model systems.  Collaborators can access PEDIGENE® from their local research facilities.

PEDIGENE Wordcloud

Personnel/Contact Information:

Director: Elizabeth R. Hauser, PhD
Office Phone: (919) 684-0603
Fax: (919) 684-0913