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 |
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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 |
format | Article |
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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.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/(SICI)1096-8628(19980508)81:3<248::AID-AJMG9>3.0.CO;2-S</identifier><identifier>PMID: 9603614</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Biological and medical sciences ; Clinical Laboratory Information Systems ; data integrity ; Database Management Systems ; General aspects. 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Raymond</creatorcontrib><title>Integrating clinical and laboratory data in genetic studies of complex phenotypes: A network-based data management system</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><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.</description><subject>Biological and medical sciences</subject><subject>Clinical Laboratory Information Systems</subject><subject>data integrity</subject><subject>Database Management Systems</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics</subject><subject>Humans</subject><subject>linkage</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>modular</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>relational database</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkVFv0zAUhSMEGt3gJyD5AaHtIcWOncYuCFR1ULoNCmrR9nblODclLHG6ONWWf49LSl9A4snSueceXZ8vCN4zOmSURq9Pl_Pp_IxRNQrlKJKnTClJYyrPJBvzt5GQ4_Fkfh5OLj7P1Ds-pMPp4k0ULh8Fg8PO42BAmZBhEin1NDh27ielzAvRUXCkRpSPmBgE3dy2uG50W9g1MWVhC6NLom1GSp3WXq-bjmS61aSwZI0W28IQ126zAh2pc2LqalPiA9n8QFu33QbdmEyIt93XzW2YaodZv15pq9dYoW2J61yL1bPgSa5Lh8_370nw_eOH1fRTeLWYzaeTq9AILlTI45gLafz_UeSoEyN8PYpiTimNRZpmaR5lQqRGSpryJFZa6lRniucMsxhTfhK86nM3TX23RddCVTiDZakt1lsHiZJSsph543VvNE3tXIM5bJqi0k0HjMIOCsAOCuwKhl3B8AcKSAYcPBQADwV-Q_EChekCIlj65Bf7E7Zphdkhd0_Bz1_u59r5-vNGW1O4gy2KOKUi8bab3nZflNj9dd1_j_vXbb3go8M-uvBoHg7RurmFUeJbhesvM_h6-e1ytbq5gHP-C76wxsk</recordid><startdate>19980508</startdate><enddate>19980508</enddate><creator>McMahon, Francis J.</creator><creator>Thomas, C.J.M.</creator><creator>Koskela, Rebecca J.</creator><creator>Breschel, Theresa S.</creator><creator>Hightower, Tyler C.</creator><creator>Rohrer, Nichole</creator><creator>Savino, Christine</creator><creator>McInnis, Melvin G.</creator><creator>Simpson, Sylvia G.</creator><creator>DePaulo, J. 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Raymond</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Integrating clinical and laboratory data in genetic studies of complex phenotypes: A network-based data management system</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1998-05-08</date><risdate>1998</risdate><volume>81</volume><issue>3</issue><spage>248</spage><epage>256</epage><pages>248-256</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>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. 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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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