Common Data Model; Data Standardization; ETL; Epilepsy; Genetics; Humans; Databases, Genetic; Epilepsy/genetics; Epilepsy/diagnosis; Epilepsy/drug therapy; Attribute values; Extract transform loads; Genetic; Genetic data; Multi-Sources; Source data; Value model; Biomedical Engineering; Health Informatics; Health Information Management
Abstract :
[en] The growing number of genes identified in relation to epilepsy represents a major breakthrough in diagnosis and treatment, but experts face the challenge of efficiently accessing and consolidating the vast amount of genetic data available. Therefore, we present the process of transforming data from different sources and formats into an Entity-Attribute-Value (EAV) model database. Combined with the use of standard coding systems, this approach will provide a scalable and adaptable database to present the data in a comprehensive way to experts via a dashboard.
Disciplines :
Neurology
Author, co-author :
Pérez Garriga, Ariadna ; Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany
Honrath, Philipp; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany
Wolking, Stefan; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany
Coldewey, Beatrice; Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany
Bozkir, Susann A; Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany
MAY, Patrick ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core
Weber, Yvonne; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany
Röhrig, Rainer; Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany
Lipprandt, Myriam; Institute of Medical Informatics, Medical Faculty, RWTH Aachen University, Aachen, Germany
External co-authors :
yes
Language :
English
Title :
Multi-Source Data ETL (Extract, Transform, Load) for a Genetic Epilepsy Diagnosis and Treatment Dashboard.
Publication date :
22 August 2024
Event name :
Medical Informatics Europe
Event organizer :
European Federation for Medical Informatics (EFMI) and the Greek Biomedical and Health Informatics Association (GBHIA)
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Knowles JK, Helbig I, Metcalf CS, Lubbers LS, Isom LL, Demarest S, et al. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress. Epilepsia. 2022;63(10):2461-75, doi: 10.1111/epi.17332.
López de Maturana E, Alonso L, Alarcón P, Martín-Antoniano IA, Pineda S, Piorno L, et al. Challenges in the Integration of Omics and Non-Omics Data. Genes. 2019 Mar;10(3):238, doi: 10.3390/genes10030238.
