Core Programs

Clinical and Laboratory Informatics Core

Core Director: Elizabeth R. Hauser, PhD
Informatics Manager: Barbara Due

The Clinical and Laboratory Informatics Core at the Duke Center for Human Genetics has provided Duke faculty, staff, and collaborators with informatics solutions in support of human genetics and genomics research for over a decade. The Informatics Core is available to all Duke researchers and their collaborators, and in 2008, was approved as a School Medicine Shared Resource. We are committed to providing state-of-the art informatics solutions that integrate clinical, molecular and sample data with analysis tools quickly and efficiently on a research-computing network.

Informatics Core at a Glance
Getting Started

Informatics Core at a Glance

The Clinical and Laboratory Informatics Core of the CHG manages the research-computing network, data management tools, and provides database and general computer programming support for research projects and administration.

The cornerstone of the Duke CHG informatics system is PEDIGENE^®, a flexible integrated system for managing large databases containing clinical, pedigree, molecular, and DNA sample data. A CTSA-affiliated core resource, PEDIGENE^® has been used to provide data storage, data description, and data analysis support for all studies conducted by CHG investigators and their collaborators.

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 has stored family history information on over 500,000 individuals and 6,000 families. Information is stored on nearly 100,000 DNA samples and over 6.5 million genotypes. In the course of collaborative studies we have developed methods for secure access to our database and software for collaborators outside the Duke CHG. Thus, we have experience in distributing data to and accepting data from a wide variety of data types, sources, and formats. Collaborators can access PEDIGENE^® from their local research facilities.

In conjunction with PEDIGENE^®, the CHG operates the Nautilus^™ Laboratory Information Management system (LIMS). Nautilus^™ is a server/fat client application developed by Thermo Fisher Scientific, Inc., that offers a secure, user-friendly way to track, collect, move, and store sample and laboratory data for the CHG's DNA Bank and Tissue Repository. Flow modules have been designed to manage requisition processing, storage location and sample availability, extraction, storage and allocation amounts, client billing and laboratory supply information. For those samples that are processed in the Molecular Genotyping Core, Nautilus^™ is again used to track billing information, and molecular results are subsequently stored in PEDIGENE^®.

The Clinical and Laboratory Informatics Core performs the following essential functions for the Duke CHG and their collaborators:

• Manage an extensive local area network of Windows-based PCs for office productivity applications and UNIX systems for scientific computing.
  
• Maintain and extend the PEDIGENE^® system: a secure, HIPAA-compliant, research database for storage of clinical, epidemiologic, and genetic data.
  
• Provide applications for entering data into and extracting data from PEDIGENE^®.
  
• Administer Nautilus^™ LIMS to facilitate tracking of samples, reagents, and laboratory results.
  
• Develop user tools from the genetic epidemiology and statistical genetics group for data analysis.
  

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Getting Started

A Study Implementation Group is available to consult with new users about how best to serve specific informatics needs. This consultation process maximizes project productivity and success, while ensuring appropriate subject protections, integration with analytic technologies, standardization of materials and methods, specimen and data integrity and security, and process efficiencies. The Study Implementation Group can assist with patient ascertainment, IRB issues, sample handling and storage, analytic technologies, informatics, data management and analysis, and budget development.

The Center for Human Genetics Clinical and Laboratory Informatics Core provides state-of-the art informatics services at highly competitive prices. Our charges for informatics development are based on an hourly rate for professional time to develop custom enhancements based on the PEDIGENE^® platform that are designed per your requirements. Development time and costs are significantly lower than many other solutions due to the fact that the PEDIGENE platform already contains a full suite of features out-of-the-box upon which your study-specific needs are added. Please contact Barbara Due at (919) 681-3561 to discuss needs and prices.

We look forward to meeting with you to discuss how we can facilitate your research.

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