3532 articles – 5253 references  [version française]

inria-00080064, version 1

Ontology-driven Data Integration for Pharmacogenomics: Application to Genome Variations

Adrien Coulet () 12, Malika Smaïl-Tabbone 1, Pascale Benlian 3, Amedeo Napoli 1, Marie-Dominique Devignes () 1

Journées Ouvertes : Biologie, Informatique et Mathématiques - JOBIM'06 (2006)

Abstract: Pharmacogenomics studies the contribution of interindividual variations in DNA sequence to different drug responses (especially adverse drug reactions). Records of millions of genomic variations, mostly known as Single Nucleotide Polymorphisms (SNP), are available today in various overlapping and heterogeneous databases including private sources. KDD (knowledge discovery in databases) process is an attractive methodology for addressing the pharmacogenomic challenge. However, the complexity of this field makes it necessary to guide the KDD process by domain knowledge. Formal representation of domain knowledge in an ontology is proposed here as a means for guiding the data selection step and for semantically integrating data about genomic variations. The designed SNP-Ontology is used to build a SNP-dedicated knowledge base which integrates data on genomic variations whatever their original representations. A specific wrapper, the SNP-Converter, has been developed for managing of representation heterogeneity and for populating the knowledge base.

  • 1:  ORPAILLEUR (INRIA Lorraine - LORIA)
  • INRIA – CNRS : UMR7503 – Université Henri Poincaré - Nancy I – Université Nancy II – Institut National Polytechnique de Lorraine (INPL)
  • 2:  KIKA medical (KIKA MEDICAL)
  • KIKA Medical
  • 3:  Trafic Membranaire et Signalisation Dans les Cellules Epitheliales
  • INSERM : U538 – Université Pierre et Marie Curie [UPMC] - Paris VI
  • Domain : Computer Science/Artificial Intelligence
    Computer Science/Databases
    Life Sciences/Quantitative Methods
  • Comment : Poster
 
  • inria-00080064, version 1
  • oai:hal.inria.fr:inria-00080064
  • From: 
  • Submitted on: Tuesday, 20 June 2006 17:01:41
  • Updated on: Tuesday, 20 June 2006 17:01:41