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Enabling	
 油knowledge	
 油management	
 油
in	
 油the	
 油Agronomic	
 油Domain	
 油
Pierre	
 油Larmande	
 油
Ins-tute	
 油of	
 油Computa-onnal	
 油Biology	
 油	
 油
(IBC)	
 油
Pierre.larmande@ird.fr	
 油
Mul7-足scale	
 油omics	
 油integra7on	
 油
BIG	
 油DATA	
 油
Research	
 油areas	
 油
Work鍖ow	
 油management	
 油
Seman7c	
 油web	
 油
Outline
≒ Data integration challenges in the Life Sciences"
≒ Ontologies/ Semantic Web Technologies"
≒ Agronomic Linked Data project"
≒ NGS Big Data project"
Data landscape in the Life Sciences
≒ The availability of biological data has increased"
≒ Advancements in:"
≒ computational biology"
≒ genome sequencing"
≒ high-throughput technologies "
≒ Integrative approaches are necessary to understand
the functioning of biological systems"
≒ Lack of effective approaches to integrate data that
has created a gap between data and knowledge"
≒ Need for an effective method to bridge gap between
data and underlying meaning"
≒ Harvest the power of overlaying different data sets"
Data integration challenges
≒ Todays Web content is suitable for human consumption"
≒ Collection of documents"
≒ the existence of links that establish connections
between documents"
≒ Low on data interoperability and lacks semantics."
Todays Web
≒ Ontologies are formal representations of knowledge - de鍖nitions of
concepts, their attributes and relations between them."
≒ To integrate data, improve machine interoperability and data
analysis required a conceptual scaffold."
≒ Ontological terms used across databases"
≒ provide cross-domain common entry points in the description."
≒ An array of ontologies are being used to bring structured integration
of various datasets."
≒ The Open Biomedical Ontologies (OBO) initiative:"
≒ serves as an umbrella for well structured orthogonal
ontologies."
≒ Ontologies represented in OBO format and OWL"
Ontologies
Semantic Web Technology
≒ An extension of the current Web technologies."
≒ Enables navigation and meaningful use of digital
resources."
≒ Support aggregation and integration of information
from diverse sources."
≒ Based on common and standard formats."
Resource Description Framework (RDF)
≒ Framework for representing information about resources
on the Web"
≒ Provides a labeled connection between two resources"
≒ Uses Unique Resource Identi鍖ers (URI)"
≒ Statements take the form of triples:"
Subject	
 油 Predicate	
 油 Object	
 油
<Gene_A>	
 油 <codes_for>	
 油 <Protein_A>	
 油
RDF	
 油Triple	
 油
≒ Combining the triples results in a directed, labeled
graph."
<Gene_A>	
 油
<Protein_A>	
 油
<has_func7on>	
 油
<BP_A>	
 油
<MF_A>	
 油
<Gene_X>	
 油
<regulates>	
 油
SPARQL
≒ Language which allows querying RDF models (graphs) "
≒ Powerful, 鍖exible"
≒ Its syntax is similar to the one of SQL"
Agronomic Linked Data (AgroLD)
≒ Semantic web based system that captures knowledge
pertaining to plant data"
≒ Aim:"
≒ Capability to answer complex real life questions"
≒ Ef鍖cient information integration / retrieval"
≒ Easy extensibility"
AgroLD  Phase I
≒ AgroLD will be developed in phases  "
≒ Phase I: includes data on Oryza sps. and Arabidopsis thaliana!
≒ SPARQL endpoint: http://bioportal.lirmm.fr:8081/test/ "
AgroLD	
 油
≒ Integrates information from:"
≒ Ontologies: Gene Ontology, Plant Ontology, Plant Trait Ontology,
Plant Environment Ontology, Crop Ontology"
≒ Other information sources: "
≒ Gene/Protein information: GOA, Gramene, Tair, OryzaBase,
UniPort "
≒ QTL information: Gramene"
≒ Pathway information: RiceCyc, AraCyc"
≒ Germplasm information: Oryza Tag Line"
≒ Homology prediction: GreenPhyl"
Information in AgroLD
Biological
process
Cellular
Component
Molecular
Function
Interaction
Gene	
 油
Taxon
Protein	
 油
protein	
 油
Modification
Pathway
has_par7cipant	
 油
contains	
 油
has_func7on	
 油
has_agent	
 油
acts_on	
 油
is_member_of	
 油
codes_for	
 油
occurs_in	
 油
has_source	
 油
protein	
 油
Target
Gene
Knowledge representation in AgroLD
Future directions
≒ Phase II: having both wider and deeper coverage to promote
comparative analysis"
≒ Include varied data types  gene expression data, protein-protein
interaction, Transcription factor- target gene "
≒ Developing methods to aid the process of hypotheses generation - e.g.
inference rules."
≒ Pluggable with work鍖ow platforms e.g.: Galaxy, OpenAlea
(VirtualPlants)."
≒ Engage with biologists to mobilise user-pull:"
≒ Develop real world use cases  studying the molecular mechanism
of panicle differentiation in rice"
Gigwa:	
 油Genotype	
 油Inves7gator	
 油for	
 油Genome	
 油
Wide	
 油Analyses	
 油
Aims	
 油of	
 油Gigwa	
 油
≒ Manage	
 油genomic,	
 油transcriptomic	
 油and	
 油
genotyping	
 油data	
 油resul-ng	
 油from	
 油NGS	
 油analyses	
 油
≒ Handle	
 油large	
 油VCF	
 油鍖les	
 油to	
 油鍖lter,	
 油query	
 油and	
 油
extract	
 油data	
 油
≒ Provide	
 油a	
 油web	
 油user	
 油interface	
 油to	
 油make	
 油the	
 油
system	
 油accessible	
 油for	
 油all	
 油	
 油
Main	
 油features	
 油
o Based	
 油on	
 油NoSQL	
 油technology	
 油
o Handles	
 油VCF	
 油鍖les	
 油(Variant	
 油Call	
 油Format)	
 油and	
 油annota-ons	
 油
o Supports	
 油mul-ple	
 油variant	
 油types:	
 油SNPs,	
 油InDels,	
 油SSRs,	
 油SV	
 油
o Powerful	
 油genotyping	
 油queries	
 油	
 油
o Easily	
 油scalable	
 油with	
 油MongoDB	
 油sharding	
 油
o Transparent	
 油access	
 油
Demo	
 油	
 油Database	
 油selec7on	
 油
Mul--足database	
 油with	
 油
restricted	
 油access	
 油
Demo	
 油	
 油datatypes	
 油selec7on	
 油
Several types of selection:
Variant search is restricted to the
selected reference sequences
and subset of individuals
Demo	
 油-足	
 油Queries	
 油
Predefined queries
Demo	
 油	
 油Filters	
 油selec7on	
 油
Several	
 油鍖lters	
 油
Demo	
 油	
 油browsing	
 油results	
 油
Acknowledgements	
 油
Dr. Patrick Valduriez!
Dr. Clement Jonquet
Dr. Manuel Ruiz! Guilhem Semp辿r辿!
Alexis DereeperGautier Sarah
Dr. Aravind Venkatesan
Florian Philippe
Contact:	
 油	
 油pierre.larmande@ird.fr	
 油	
 油
Ad

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Ad

Enabling knowledge management in the Agronomic Domain

  • 1. Enabling 油knowledge 油management 油 in 油the 油Agronomic 油Domain 油 Pierre 油Larmande 油 Ins-tute 油of 油Computa-onnal 油Biology 油 油 (IBC) 油 Pierre.larmande@ird.fr 油
  • 2. Mul7-足scale 油omics 油integra7on 油 BIG 油DATA 油 Research 油areas 油 Work鍖ow 油management 油 Seman7c 油web 油
  • 3. Outline ≒ Data integration challenges in the Life Sciences" ≒ Ontologies/ Semantic Web Technologies" ≒ Agronomic Linked Data project" ≒ NGS Big Data project"
  • 4. Data landscape in the Life Sciences ≒ The availability of biological data has increased" ≒ Advancements in:" ≒ computational biology" ≒ genome sequencing" ≒ high-throughput technologies " ≒ Integrative approaches are necessary to understand the functioning of biological systems"
  • 5. ≒ Lack of effective approaches to integrate data that has created a gap between data and knowledge" ≒ Need for an effective method to bridge gap between data and underlying meaning" ≒ Harvest the power of overlaying different data sets" Data integration challenges
  • 6. ≒ Todays Web content is suitable for human consumption" ≒ Collection of documents" ≒ the existence of links that establish connections between documents" ≒ Low on data interoperability and lacks semantics." Todays Web
  • 7. ≒ Ontologies are formal representations of knowledge - de鍖nitions of concepts, their attributes and relations between them." ≒ To integrate data, improve machine interoperability and data analysis required a conceptual scaffold." ≒ Ontological terms used across databases" ≒ provide cross-domain common entry points in the description." ≒ An array of ontologies are being used to bring structured integration of various datasets." ≒ The Open Biomedical Ontologies (OBO) initiative:" ≒ serves as an umbrella for well structured orthogonal ontologies." ≒ Ontologies represented in OBO format and OWL" Ontologies
  • 8. Semantic Web Technology ≒ An extension of the current Web technologies." ≒ Enables navigation and meaningful use of digital resources." ≒ Support aggregation and integration of information from diverse sources." ≒ Based on common and standard formats."
  • 9. Resource Description Framework (RDF) ≒ Framework for representing information about resources on the Web" ≒ Provides a labeled connection between two resources" ≒ Uses Unique Resource Identi鍖ers (URI)" ≒ Statements take the form of triples:" Subject 油 Predicate 油 Object 油 <Gene_A> 油 <codes_for> 油 <Protein_A> 油 RDF 油Triple 油
  • 10. ≒ Combining the triples results in a directed, labeled graph." <Gene_A> 油 <Protein_A> 油 <has_func7on> 油 <BP_A> 油 <MF_A> 油 <Gene_X> 油 <regulates> 油
  • 11. SPARQL ≒ Language which allows querying RDF models (graphs) " ≒ Powerful, 鍖exible" ≒ Its syntax is similar to the one of SQL"
  • 12. Agronomic Linked Data (AgroLD) ≒ Semantic web based system that captures knowledge pertaining to plant data" ≒ Aim:" ≒ Capability to answer complex real life questions" ≒ Ef鍖cient information integration / retrieval" ≒ Easy extensibility"
  • 13. AgroLD Phase I ≒ AgroLD will be developed in phases " ≒ Phase I: includes data on Oryza sps. and Arabidopsis thaliana! ≒ SPARQL endpoint: http://bioportal.lirmm.fr:8081/test/ " AgroLD 油
  • 14. ≒ Integrates information from:" ≒ Ontologies: Gene Ontology, Plant Ontology, Plant Trait Ontology, Plant Environment Ontology, Crop Ontology" ≒ Other information sources: " ≒ Gene/Protein information: GOA, Gramene, Tair, OryzaBase, UniPort " ≒ QTL information: Gramene" ≒ Pathway information: RiceCyc, AraCyc" ≒ Germplasm information: Oryza Tag Line" ≒ Homology prediction: GreenPhyl" Information in AgroLD
  • 15. Biological process Cellular Component Molecular Function Interaction Gene 油 Taxon Protein 油 protein 油 Modification Pathway has_par7cipant 油 contains 油 has_func7on 油 has_agent 油 acts_on 油 is_member_of 油 codes_for 油 occurs_in 油 has_source 油 protein 油 Target Gene Knowledge representation in AgroLD
  • 16. Future directions ≒ Phase II: having both wider and deeper coverage to promote comparative analysis" ≒ Include varied data types gene expression data, protein-protein interaction, Transcription factor- target gene " ≒ Developing methods to aid the process of hypotheses generation - e.g. inference rules." ≒ Pluggable with work鍖ow platforms e.g.: Galaxy, OpenAlea (VirtualPlants)." ≒ Engage with biologists to mobilise user-pull:" ≒ Develop real world use cases studying the molecular mechanism of panicle differentiation in rice"
  • 17. Gigwa: 油Genotype 油Inves7gator 油for 油Genome 油 Wide 油Analyses 油
  • 18. Aims 油of 油Gigwa 油 ≒ Manage 油genomic, 油transcriptomic 油and 油 genotyping 油data 油resul-ng 油from 油NGS 油analyses 油 ≒ Handle 油large 油VCF 油鍖les 油to 油鍖lter, 油query 油and 油 extract 油data 油 ≒ Provide 油a 油web 油user 油interface 油to 油make 油the 油 system 油accessible 油for 油all 油 油
  • 19. Main 油features 油 o Based 油on 油NoSQL 油technology 油 o Handles 油VCF 油鍖les 油(Variant 油Call 油Format) 油and 油annota-ons 油 o Supports 油mul-ple 油variant 油types: 油SNPs, 油InDels, 油SSRs, 油SV 油 o Powerful 油genotyping 油queries 油 油 o Easily 油scalable 油with 油MongoDB 油sharding 油 o Transparent 油access 油
  • 20. Demo 油 油Database 油selec7on 油 Mul--足database 油with 油 restricted 油access 油
  • 21. Demo 油 油datatypes 油selec7on 油 Several types of selection: Variant search is restricted to the selected reference sequences and subset of individuals
  • 22. Demo 油-足 油Queries 油 Predefined queries
  • 23. Demo 油 油Filters 油selec7on 油 Several 油鍖lters 油
  • 24. Demo 油 油browsing 油results 油
  • 25. Acknowledgements 油 Dr. Patrick Valduriez! Dr. Clement Jonquet Dr. Manuel Ruiz! Guilhem Semp辿r辿! Alexis DereeperGautier Sarah Dr. Aravind Venkatesan Florian Philippe Contact: 油 油pierre.larmande@ird.fr 油 油