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

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 da...

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Veröffentlicht in:American journal of medical genetics 1998-05, Vol.81 (3), p.248-256
Hauptverfasser: McMahon, Francis J., Thomas, C.J.M., Koskela, Rebecca J., Breschel, Theresa S., Hightower, Tyler C., Rohrer, Nichole, Savino, Christine, McInnis, Melvin G., Simpson, Sylvia G., DePaulo, J. Raymond
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container_end_page 256
container_issue 3
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container_title American journal of medical genetics
container_volume 81
creator McMahon, Francis J.
Thomas, C.J.M.
Koskela, Rebecca J.
Breschel, Theresa S.
Hightower, Tyler C.
Rohrer, Nichole
Savino, Christine
McInnis, Melvin G.
Simpson, Sylvia G.
DePaulo, J. Raymond
description 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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 81:248–256, 1998. © 1998 Wiley‐Liss, Inc.
doi_str_mv 10.1002/(SICI)1096-8628(19980508)81:3<248::AID-AJMG9>3.0.CO;2-S
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subjects Biological and medical sciences
Clinical Laboratory Information Systems
data integrity
Database Management Systems
General aspects. Genetic counseling
Genetics
Humans
linkage
Medical genetics
Medical sciences
modular
Pedigree
Phenotype
relational database
title Integrating clinical and laboratory data in genetic studies of complex phenotypes: A network-based data management system
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