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eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology

Sebastian Schönherr, Hansi Weißensteiner, Stefan Coassin, Günther Specht, Florian Kronenberg, Anita Brandstätter
2009 BMC Bioinformatics  
Description: We developed a database system for an efficient combination and management of phenotypes and genotypes (eCOMPAGT) deriving from genetic epidemiological studies. eCOMPAGT securely stores and  ...  High-throughput genotyping and phenotyping projects of large epidemiological study populations require sophisticated laboratory information management systems.  ...  The authors appreciate the assistance of Robert Binna, Wolfgang Gassler (Department of Databases and Information Systems, University of Innsbruck), and Guido Fischer (Helmholtz Center Munich).  ... 
doi:10.1186/1471-2105-10-139 pmid:19432954 pmcid:PMC2685123 fatcat:33tojq2exbhkzi5jpvsvppu4ju

eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies

Hansi Weißensteiner, Sebastian Schönherr, Günther Specht, Florian Kronenberg, Anita Brandstätter
2010 BMC Bioinformatics  
Description: eCOMPAGT, a system to store, administer and connect phenotype data to all kinds of genotype data is now enhanced by the possibility of storing mtDNA profiles and allowing their validation,  ...  Furthermore, eCOMPAGT has been improved in its sophisticated transparency (support of MySQL and Oracle), security aspects (by using database technology) and the option to import, manage and store genotypes  ...  , combined with data management for numerous genotyping methods and the linkage to phenotypes render eCOMPAGT a powerful tool which covers different aspects of the laboratory workflow.  ... 
doi:10.1186/1471-2105-11-122 pmid:20214782 pmcid:PMC2841209 fatcat:3lyrw6epuzh6pptvygemd2nruu

CONAN: copy number variation analysis software for genome-wide association studies

Lukas Forer, Sebastian Schönherr, Hansi Weissensteiner, Florian Haider, Thomas Kluckner, Christian Gieger, Heinz-Erich Wichmann, Günther Specht, Florian Kronenberg, Anita Kloss-Brandstätter
2010 BMC Bioinformatics  
Copy number variations (CNVs) promise to shed additional light on the genetic basis of monogenic as well as complex diseases and phenotypes.  ...  Indeed, the number of detected associations between CNVs and certain phenotypes are constantly increasing.  ...  In addition, we are grateful for the advice of Claudia Lamina and Stefan Coassin (Division of Genetic Epidemiology, Innsbruck Medical University).  ... 
doi:10.1186/1471-2105-11-318 pmid:20546565 pmcid:PMC2894823 fatcat:wvx6av2erzh7lmpyrtmq64uzzu