TY - JOUR
T1 - Integrating clinical and laboratory data in genetic studies of complex phenotypes
T2 - A network-based data management system
AU - McMahon, Francis J.
AU - Thomas, C. J.M.
AU - Koskela, Rebecca J.
AU - Breschel, Theresa S.
AU - Hightower, Tyler C.
AU - Rohrer, Nichole
AU - Savino, Christine
AU - McInnis, Melvin G.
AU - Simpson, Sylvia G.
AU - DePaulo, J. Raymond
PY - 1998/5/8
Y1 - 1998/5/8
N2 - 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.
AB - 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.
KW - Data integrity
KW - Linkage
KW - Modular
KW - Relational database
UR - http://www.scopus.com/inward/record.url?scp=0032496294&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032496294&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19980508)81:3<248::AID-AJMG9>3.0.CO;2-S
DO - 10.1002/(SICI)1096-8628(19980508)81:3<248::AID-AJMG9>3.0.CO;2-S
M3 - Article
C2 - 9603614
AN - SCOPUS:0032496294
VL - 81
SP - 248
EP - 256
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
SN - 1552-4841
IS - 3
ER -