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Authors: Matthijs van der Kroon 1 ; Ignacio Lereu Ramirez 1 ; Ana M. Levin 1 ; Óscar Pastor 1 and Sjaak Brinkkemper 2

Affiliations: 1 Universidad Politécnica de Valencia, Spain ; 2 Utrecht University, Netherlands

Keyword(s): BRCA1, Conceptual model, Data integration, Human genome.

Related Ontology Subjects/Areas/Topics: Bioinformatics ; Biomedical Engineering ; Genomics and Proteomics ; Model Design and Evaluation

Abstract: The last decades a large amount of research has been done in the genomics domain which has and is generating terabytes, if not exabytes, of information stored globally in a very fragmented way. Different databases use different ways of storing the same data, resulting in undesired redundancy and restrained information transfer. Adding to this, keeping the existing databases consistent and data integrity maintained is mainly left to human intervention which in turn is very costly, both in time and money as well as error prone. Identifying a fixed conceptual dictionary in the form of a conceptual model thus seems crucial. This paper presents an effort to integrating the mutational data from the established genomic data source HGMD into a conceptual model driven database HGDB, thereby providing useful lessons to improve the already existing conceptual model of the human genome.

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Paper citation in several formats:
van der Kroon, M.; Lereu Ramirez, I.; M. Levin, A.; Pastor, Ó. and Brinkkemper, S. (2011). MUTATIONAL DATA LOADING ROUTINES FOR HUMAN GENOME DATABASES - The BRCA1 Case. In Proceedings of the International Conference on Bioinformatics Models, Methods and Algorithms (BIOSTEC 2011) - BIOINFORMATICS; ISBN 978-989-8425-36-2; ISSN 2184-4305, SciTePress, pages 266-269. DOI: 10.5220/0003130902660269

@conference{bioinformatics11,
author={Matthijs {van der Kroon}. and Ignacio {Lereu Ramirez}. and Ana {M. Levin}. and Óscar Pastor. and Sjaak Brinkkemper.},
title={MUTATIONAL DATA LOADING ROUTINES FOR HUMAN GENOME DATABASES - The BRCA1 Case},
booktitle={Proceedings of the International Conference on Bioinformatics Models, Methods and Algorithms (BIOSTEC 2011) - BIOINFORMATICS},
year={2011},
pages={266-269},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0003130902660269},
isbn={978-989-8425-36-2},
issn={2184-4305},
}

TY - CONF

JO - Proceedings of the International Conference on Bioinformatics Models, Methods and Algorithms (BIOSTEC 2011) - BIOINFORMATICS
TI - MUTATIONAL DATA LOADING ROUTINES FOR HUMAN GENOME DATABASES - The BRCA1 Case
SN - 978-989-8425-36-2
IS - 2184-4305
AU - van der Kroon, M.
AU - Lereu Ramirez, I.
AU - M. Levin, A.
AU - Pastor, Ó.
AU - Brinkkemper, S.
PY - 2011
SP - 266
EP - 269
DO - 10.5220/0003130902660269
PB - SciTePress

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