A Holistic Approach for Integrating Genomic Variation Information

  • Pedro Lopes
  • José Luís Oliveira
Part of the Lecture Notes in Computer Science book series (LNCS, volume 6620)


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 .


LSDB human variome human genetics bioinformatics data integration 


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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Pedro Lopes
    • 1
  • José Luís Oliveira
    • 1
  1. 1.DETI/IEETAUniversity of AveiroAveiroPortugal

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