Abstract
Personalized medicine is strongly tied with human variome research: understanding the impact of specific genetic sequence mutations on observable human traits will play a key role in the quest for custom drugs therapies and improved patient care. Recent growth in this particular field leveraged the appearance of locus-specific databases (LSDBs). Although these systems are praised in the scientific community, they lack some features that can promote a more widespread usage. Existing systems are closed, independent and designed solely for gene curators. In this paper we present a new approach based on a holistic perspective of the genomic variation field, envisaging the integration of LSDBs, genes and variants, as well as a broad set of related resources in an innovative workspace. A prototype implementation for this approach is deployed online at http://bioinformatics.ua.pt/WAVe .
Keywords
- LSDB
- human variome
- human genetics
- bioinformatics
- data integration
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Lopes, P., Luís Oliveira, J. (2012). A Holistic Approach for Integrating Genomic Variation Information. In: Freitas, A.T., Navarro, A. (eds) Bioinformatics for Personalized Medicine. JBI 2010. Lecture Notes in Computer Science(), vol 6620. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-28062-7_5
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DOI: https://doi.org/10.1007/978-3-642-28062-7_5
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-28061-0
Online ISBN: 978-3-642-28062-7
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