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Authors: M. Ángeles Pastor ; Verónica Burriel Coll and Óscar Pastor

Affiliation: Universidad Politécnica de Valencia, Spain

Keyword(s): Conceptual Mmodelling, Bioinformatics and information systems, Human genome modeling, Linking genotype and phenotype.

Related Ontology Subjects/Areas/Topics: Algorithms and Software Tools ; Bioinformatics ; Biomedical Engineering ; Databases and Data Management ; Genomics and Proteomics

Abstract: It is well-known in the bioinformatics domain that the millions of mutations and polymorphisms that occur in human populations are potential predictors of disease and any other type of human health related problems. Finding sound strategies for going from the Genotype to the Phenotype is probably the main challenge of the modern bioinformatics. Only with the sound knowledge provided by the IS theory, a systematic approach to large-scale analysis of Genotype-Phenotype correlations can be developed. The conceptual expressiveness of a well-known and widely-accepted database that stores the current information about genome mutations, Human Gene Mutation Database, is compared with the information that is relevant from a purely conceptual modelling perspective, and the result from this comparison is reported.

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Paper citation in several formats:
Ángeles Pastor, M.; Burriel Coll, V. and Pastor, Ó. (2010). CONCEPTUAL MODELING OF HUMAN GENOME MUTATIONS - A Dichotomy Between what we Have and What we Should Have. In Proceedings of the First International Conference on Bioinformatics (BIOSTEC 2010) - BIOINFORMATICS; ISBN 978-989-674-019-1; ISSN 2184-4305, SciTePress, pages 160-166. DOI: 10.5220/0002741201600166

@conference{bioinformatics10,
author={M. {Ángeles Pastor}. and Verónica {Burriel Coll}. and Óscar Pastor.},
title={CONCEPTUAL MODELING OF HUMAN GENOME MUTATIONS - A Dichotomy Between what we Have and What we Should Have},
booktitle={Proceedings of the First International Conference on Bioinformatics (BIOSTEC 2010) - BIOINFORMATICS},
year={2010},
pages={160-166},
publisher={SciTePress},
organization={INSTICC},
doi={10.5220/0002741201600166},
isbn={978-989-674-019-1},
issn={2184-4305},
}

TY - CONF

JO - Proceedings of the First International Conference on Bioinformatics (BIOSTEC 2010) - BIOINFORMATICS
TI - CONCEPTUAL MODELING OF HUMAN GENOME MUTATIONS - A Dichotomy Between what we Have and What we Should Have
SN - 978-989-674-019-1
IS - 2184-4305
AU - Ángeles Pastor, M.
AU - Burriel Coll, V.
AU - Pastor, Ó.
PY - 2010
SP - 160
EP - 166
DO - 10.5220/0002741201600166
PB - SciTePress

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