From Nancy, France to Pisa, Italia Ontology-guided Data Preparation - - PowerPoint PPT Presentation

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From Nancy, France to Pisa, Italia Ontology-guided Data Preparation - - PowerPoint PPT Presentation

From Nancy, France to Pisa, Italia Ontology-guided Data Preparation for Discovering Genotype-Phenotype Relationships Adrien Coulet, Malika Smal-Tabbone, Pascale Benlian, Amedeo Napoli and Marie-Dominique Devignes Laboratoire Lorrain de


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From Nancy, France to Pisa, Italia

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Adrien Coulet, Malika Smaïl-Tabbone, Pascale Benlian, Amedeo Napoli and Marie-Dominique Devignes

Laboratoire Lorrain de Recherche en Informatique et ses Applications (CNRS, INRIA, University of Nancy), Nancy, France

Ontology-guided Data Preparation for Discovering Genotype-Phenotype Relationships

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3/5

  • A. Coulet, Ontology-guided Data Preparation

The Problem: Limits to KDD in life sciences

 Results of KDD in biology are complex

COMPLEX DATA COMPLEX PROCESS COMPLEX RESULTS

Biological results: e.g. large scale clinical study Knowledge Discovery in Databases (KDD) Process

Interpretation

D a ta B a s e s

D a ta m in in g F o r m a ttin g I n te g r a tio n S e le c tio n

In t e g r a te d D a ta S e le c t e d D a t a F o rm a tt e d d a ta P a tt e r n D a ta B a s e s

D a ta m in in g F o r m a ttin g I n te g r a tio n S e le c tio n

In t e g r a te d D a ta S e le c t e d D a t a F o rm a tt e d d a ta P a tt e r n

COMPLEX DATA COMPLEX PROCESS COMPLEX RESULTS COMPLEX DATA COMPLEX PROCESS COMPLEX RESULTS

Biological results: e.g. large scale clinical study Biological results: e.g. large scale clinical study Knowledge Discovery in Databases (KDD) Process Knowledge Discovery in Databases (KDD) Process

Interpretation

D a ta B a s e s

D a ta m in in g F o r m a ttin g I n te g r a tio n S e le c tio n

In t e g r a te d D a ta S e le c t e d D a t a F o rm a tt e d d a ta P a tt e r n D a ta B a s e s

D a ta m in in g F o r m a ttin g I n te g r a tio n S e le c tio n

In t e g r a te d D a ta S e le c t e d D a t a F o rm a tt e d d a ta P a tt e r n

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Proposition: Use ontologies for guiding the KDD

 1) Build bridges between data and knowledge

 Mapping between 

assertions of the KB and

attributes of the DB

 Example:

 2) Use knowledge in order to reduce the size of the data set

 Thanks to subsumptions, object properties, class definitions, etc.  In order to simplify the interpretation step of KDD process

variant coding_variant rs_003 rs_004 rs_005 non_ coding_variant

… rs_007 rs_006 rs_005 rs_004 rs_003 rs_002 rs_001 … xanthoma [LDL]b … rs_007 rs_006 rs_005 rs_004 rs_003 rs_002 rs_001 … xanthoma [LDL]b … patient_004 patient_003 patient_002 patient_001 … patient_004 patient_003 patient_002 patient_001

Large scale clinical study

SNP-Ontology

(detail)

SNP-Ontology

(detail)

SNP-KB

(detail)

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  • A. Coulet, Ontology-guided Data Preparation

For more details …

 …see you around the poster  Poster n°7  Contact: adrien.coulet@loria.fr