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Table of Contents
Vol. 58, No. 3-4, 2004
Issue release date: March 2005
Section title: Paper
Hum Hered 2004;58:122–130
(DOI:10.1159/000083538)

Computer-Assisted Phenotype Characterization for Genetic Research in Psychiatry

Fangerau H. · Ohlraun S. · Granath R.O. · Nöthen M.M. · Rietschel M. · Schulze T.G.
aDepartment of Psychiatry, University of Bonn, Bonn, bInstitute for the History of Medicine, University of Düsseldorf, Düsseldorf, cDivision of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, dDepartment of Genomics, Life and Brain Center, University of Bonn, Bonn, and eInstitute of Human Genetics, University of Bonn, Bonn, Germany

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Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 6/30/2004
Accepted: 8/27/2004
Published online: 3/21/2005

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE

Abstract

Psychiatric disorders differ from other complex phenotypes in their lack of objectively assessable biological markers that contribute to the establishment of a research diagnosis for genetic studies. To nevertheless allow for the delineation of genetically meaningful diagnostic entities for psychiatric genetic research, comprehensive phenotype characterization procedures are required. It is widely agreed that these should include the standardized assessment of life-time clinical symptomatology, sociodemographic, and environmental factors. Data should be based on several sources, i.e. diagnostic interviews with probands and their relatives as well as a thorough review of medical records, and final assignment of diagnosis should follow robust algorithms (i.e. best-estimate procedures, consensus diagnosis). Here, we outline a practical implementation of such a phenotype characterization strategy, including patient recruitment, study enrolment procedures, comprehensive diagnostic assessment, and data management. We argue that successful psychiatric phenotype characterization requires flexible tools. For this purpose, we have developed a computer-assisted phenotype characterization inventory, built around the backbone of a relational database. It allows for the straightforward assessment of symptoms, automated error checks and diagnostic assignment, easily manageable data storage and handling, and flexible data transfer between various research centers even across language barriers, while at the same time keeping up with the highest standards for the protection of sensitive patient data.


  

Author Contacts

Thomas G. Schulze, MD
Division of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health
University of Heidelberg, J5
D–68159 Mannheim (Germany)
Tel. +49 621 1703 6056, Fax +49 621 1703 6055, E-Mail schulze@zi-mannheim.de

  

Article Information

Received: June 30, 2004
Accepted: August 27, 2004
Number of Print Pages : 9
Number of Figures : 4, Number of Tables : 1, Number of References : 48

  

Publication Details

Human Heredity (International Journal of Human and Medical Genetics)

Vol. 58, No. 3-4, Year 2004 (Cover Date: Released March 2005)

Journal Editor: J. Ott, New York, N.Y.
ISSN: 0001–5652 (print), 1423–0062 (Online)

For additional information: http://www.karger.ch/hhe


Article / Publication Details

First-Page Preview
Abstract of Paper

Received: 6/30/2004
Accepted: 8/27/2004
Published online: 3/21/2005

Number of Print Pages: 9
Number of Figures: 4
Number of Tables: 1

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: http://www.karger.com/HHE


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