Integrating clinical and laboratory data in genetic studies of complex phenotypes: A network-based data management system

Francis J. McMahon, C. J.M. Thomas, Rebecca J. Koskela, Theresa S. Breschel, Tyler C. Hightower, Nichole Rohrer, Christine Savino, Melvin G. McInnis, Sylvia G. Simpson, J. Raymond DePaulo

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


The identification of genes underlying a complex phenotype can be a massive undertaking, and may require a much larger sample size than thought previously. The integration of such large volumes of clinical and laboratory data has become a major challenge. In this paper we describe a network-based data management system designed to address this challenge. Our system offers several advantages. Since the system uses commercial software, it obviates the acquisition, installation, and debugging of privately-available software, and is fully compatible with Windows and other commercial software. The system uses relational database architecture, which offers exceptional flexibility, facilitates complex data queries, and expedites extensive data quality control. The system is particularly designed to integrate clinical and laboratory data efficiently, producing summary reports, pedigrees, and exported files containing both phenotype and genotype data in a virtually unlimited range of formats. We describe a comprehensive system that manages clinical, DNA, cell line, and genotype data, but since the system is modular, researchers can set up only those elements which they need immediately, expanding later as needed.

Original languageEnglish (US)
Pages (from-to)248-256
Number of pages9
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number3
StatePublished - May 8 1998


  • Data integrity
  • Linkage
  • Modular
  • Relational database

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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