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SADI for GMOD: 
                  Bringing Model Organism 
                  Databases onto the 
                  Semantic Web 

 Ben Vandervalk, Luke McCarthy, Edward 
        Kawas, Mark Wilkinson

James Hogg Research Centre, Heart + Lung Institute
         University of British Columbia

    http://code.google.com/p/sadi/wiki/SADIforGMOD
SADI for GMOD: Background
      SADI (Semantic Automated Discovery and 
      Integration)

      • Standard for Web services that consume/generate 
        RDF
      • Motivation: automated integration of bioinformatics 
        data and software 

      GMOD (Generic Model Organism Database)

      • Toolkit for building a model organism database and 
        website
      • Collection of related open source projects: e.g. 
        Chado, Gbrowse, Pathway Tools  
      • Many sites use GMOD components: FlyBase, 
        BeetleBase, DictyBase, etc. 
SADI in a Nutshell
• to invoke a SADI service:
   o HTTP POST an RDF document to the service URI
   o e.g. $ curl --data-binary @input.rdf
     http://sadiframework.org/examples/hello

• to get service metadata:  
   o HTTP GET on service URL
   o returns an RDF document with service name, description, etc. 
   o e.g. $ curl http://sadiframework.org/examples/hello


• structure of input/output data is described in OWL
   o service provider specifies one input OWL class and one output OWL class


• strengths of SADI
   o no framework-specific messaging formats or ontologies
   o supports batch processing of inputs
   o supports long-running services (asynchronous services)


                more info: http://sadiframework.org/
SADI for GMOD
• SADI services for accessing sequence feature data
• implemented as Perl CGI scripts

  Service Name              Input               Relationship                Output


 get_feature_info     database identifier          is about            feature description

  get_features_                                                       collection of feature 
                     genomic coordinates           overlaps
overlapping_region                                                        descriptions

 get_sequence_                                                        DNA, RNA, or amino 
                     genomic coordinates      is represented by
   for_region                                                           acid sequence

                                                                      collection of feature 
get_child_features    feature description   has part / derives into
                                                                          descriptions

                                              is part of / derives    collection of feature 
get_parent_feature    feature description
                                                      from                descriptions
SADI for GMOD: Structure of Service 
                    Input/Output RDF
             Input RDF (N3)                                          Output RDF (N3)
@prefix lsrn: <http://purl.oclc.org/SADI/LSRN/> .   @perefix lsrn: <http://purl.oclc.org/SADI/LSRN/> .
@prefix GeneID: <http://lsrn.org/GeneID:> .         @prefix GeneID: <http://lsrn.org/GeneID:> .
                                                    @prefix FlyBase: <http://flybase.org/cgi-bin/sadi.gmod/feature?
GeneID:49962                                        id=> .
    a lsrn:GeneID_Record;                           @prefix GenBank: <http://lsrn.org/GB:> .
    sio:SIO_000008 [ # p = 'has attribute'
        a lsrn:GeneID_Identifier;                   # p = 'is about'
        sio:SIO_000300 "49962" # p = 'has value'    GeneID:49962 sio:SIO_000332 FlyBase:FBgn0040037 .
    ] .
                                                    # feature

                                                    FlyBase:FBgn0040037
                                                        a SO:SO_0000704 . # o = 'gene'
                                                        range:position [
         HTTP                                               a range:RangedSequencePosition;
                                                            sio:SIO_000053 . # p = 'has proper part'
         POST                                                    [ a range:StartPosition; sio:SIO_000300 26994];
                                                            sio:SIO_000053 . # p = 'has proper part'
                                                                [ a range:EndPosition; sio:SIO_000300 32391];
                                                            range:in_relation_to _:minus_strand_seq
                                                        ] .

                                                    _:minus_strand_seq
                                                        sio:SIO_000011 [ # p = 'represents'
                                                            a strand:MinusStrand;
                                                            sio:SIO_000093 GenBank:AE014135 # p = 'is proper part of'
                                                        ] .

                                                    # reference feature (chromosome)

                                                    FlyBase:4 # chromosome 4
          get_feature_info                              a SO:SO_0000105 . # o = 'chromosome arm'
SADI for GMOD: Setting up the Services
1. Load your GFF files into a Bio::DB::SeqFeature::Store database (mysql)
 
2. Install SADI for GMOD dependencies with CPAN

3. Download the SADI for GMOD tarball and unpack into cgi-bin

4. Set DB connection parameters in cgi-bin/sadi.gmod/sadi.gmod.conf

               [GENERAL]
               db_adaptor = Bio::DB::SeqFeature::Store
               db_args    = -adaptor DBI::mysql
                            -dsn     dbi:mysql:database=flybase
               base_url   = http://flybase.org/cgi-bin/sadi.gmod/


5. Configure Dbxref mappings in cgi-bin/sadi.gmod/dbxref.conf

               [DBXREF_TO_LSRN]
               SwissProt = UniProt
               UniProtKB = UniProt
               SwissProt/TrEMBL = UniProt
               ...


6. Register the services in public SADI registry: http://sadiframework.org/registry


          more info: http://code.google.com/p/sadi/wiki/SADIforGMOD
SADI Client Software

 SHARE Query Engine                    SADI Taverna Plugin




SPARQL Query => SADI Workflow             Design SADI workflows
 http://biordf.net/cardioSHARE/query   http://sadiframework.org/content/
                                       2010/05/03/sadi-taverna-plugin-
                                       tutorial/
Acknowledgements
    Team
    Mark Wilkinson: Principal Investigator
    Luke McCarthy: Lead Programmer, SADI & SHARE
    Edward Kawas: Perl Programmer, SADI


    Funding
                                            Microsoft
                                            Research




                        http://sadiframework.org/
Extra Slides
Demo with SHARE Query Engine
     SPARQL Query                                    SADI Workflow
"What proteins are homologous to FlyBase
protein FBpp0288804?"
PREFIX FlyBase: <http://lsrn.org/FLYBASE:>
PREFIX sio: <http://semanticscience.org/resource/>

SELECT ?homolog
WHERE {

    # SIO_000332 = 'is about'
    FlyBase:FBpp0288804 sio:SIO_000332 ?protein .

    # SIO_000205 = 'is represented by'
    ?protein sio:SIO_000205 ?sequence .

    # SIO_010302 = 'is homologous to'
    ?protein sio:SIO_010302 ?homolog .

}




                   online demo: http://biordf.net/cardioSHARE/query

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Bringing Model Organism Databases onto Semantic Web

  • 1. SADI for GMOD:  Bringing Model Organism  Databases onto the  Semantic Web  Ben Vandervalk, Luke McCarthy, Edward  Kawas, Mark Wilkinson James Hogg Research Centre, Heart + Lung Institute University of British Columbia http://code.google.com/p/sadi/wiki/SADIforGMOD
  • 2. SADI for GMOD: Background SADI (Semantic Automated Discovery and  Integration) • Standard for Web services that consume/generate  RDF • Motivation: automated integration of bioinformatics  data and software  GMOD (Generic Model Organism Database) • Toolkit for building a model organism database and  website • Collection of related open source projects: e.g.  Chado, Gbrowse, Pathway Tools   • Many sites use GMOD components: FlyBase,  BeetleBase, DictyBase, etc. 
  • 3. SADI in a Nutshell • to invoke a SADI service: o HTTP POST an RDF document to the service URI o e.g. $ curl --data-binary @input.rdf http://sadiframework.org/examples/hello • to get service metadata:   o HTTP GET on service URL o returns an RDF document with service name, description, etc.  o e.g. $ curl http://sadiframework.org/examples/hello • structure of input/output data is described in OWL o service provider specifies one input OWL class and one output OWL class • strengths of SADI o no framework-specific messaging formats or ontologies o supports batch processing of inputs o supports long-running services (asynchronous services) more info: http://sadiframework.org/
  • 4. SADI for GMOD • SADI services for accessing sequence feature data • implemented as Perl CGI scripts Service Name Input Relationship Output get_feature_info database identifier is about feature description get_features_ collection of feature  genomic coordinates overlaps overlapping_region descriptions get_sequence_ DNA, RNA, or amino  genomic coordinates is represented by for_region acid sequence collection of feature  get_child_features feature description has part / derives into descriptions is part of / derives  collection of feature  get_parent_feature feature description from descriptions
  • 5. SADI for GMOD: Structure of Service  Input/Output RDF Input RDF (N3) Output RDF (N3) @prefix lsrn: <http://purl.oclc.org/SADI/LSRN/> . @perefix lsrn: <http://purl.oclc.org/SADI/LSRN/> . @prefix GeneID: <http://lsrn.org/GeneID:> . @prefix GeneID: <http://lsrn.org/GeneID:> . @prefix FlyBase: <http://flybase.org/cgi-bin/sadi.gmod/feature? GeneID:49962 id=> . a lsrn:GeneID_Record; @prefix GenBank: <http://lsrn.org/GB:> . sio:SIO_000008 [ # p = 'has attribute' a lsrn:GeneID_Identifier; # p = 'is about' sio:SIO_000300 "49962" # p = 'has value' GeneID:49962 sio:SIO_000332 FlyBase:FBgn0040037 . ] . # feature FlyBase:FBgn0040037 a SO:SO_0000704 . # o = 'gene' range:position [ HTTP  a range:RangedSequencePosition; sio:SIO_000053 . # p = 'has proper part' POST [ a range:StartPosition; sio:SIO_000300 26994]; sio:SIO_000053 . # p = 'has proper part' [ a range:EndPosition; sio:SIO_000300 32391]; range:in_relation_to _:minus_strand_seq ] . _:minus_strand_seq sio:SIO_000011 [ # p = 'represents' a strand:MinusStrand; sio:SIO_000093 GenBank:AE014135 # p = 'is proper part of' ] . # reference feature (chromosome) FlyBase:4 # chromosome 4 get_feature_info a SO:SO_0000105 . # o = 'chromosome arm'
  • 6. SADI for GMOD: Setting up the Services 1. Load your GFF files into a Bio::DB::SeqFeature::Store database (mysql)   2. Install SADI for GMOD dependencies with CPAN 3. Download the SADI for GMOD tarball and unpack into cgi-bin 4. Set DB connection parameters in cgi-bin/sadi.gmod/sadi.gmod.conf [GENERAL] db_adaptor = Bio::DB::SeqFeature::Store db_args = -adaptor DBI::mysql -dsn dbi:mysql:database=flybase base_url = http://flybase.org/cgi-bin/sadi.gmod/ 5. Configure Dbxref mappings in cgi-bin/sadi.gmod/dbxref.conf [DBXREF_TO_LSRN] SwissProt = UniProt UniProtKB = UniProt SwissProt/TrEMBL = UniProt ... 6. Register the services in public SADI registry: http://sadiframework.org/registry more info: http://code.google.com/p/sadi/wiki/SADIforGMOD
  • 7. SADI Client Software SHARE Query Engine SADI Taverna Plugin SPARQL Query => SADI Workflow Design SADI workflows http://biordf.net/cardioSHARE/query http://sadiframework.org/content/ 2010/05/03/sadi-taverna-plugin- tutorial/
  • 8. Acknowledgements Team   Mark Wilkinson: Principal Investigator Luke McCarthy: Lead Programmer, SADI & SHARE Edward Kawas: Perl Programmer, SADI Funding Microsoft Research http://sadiframework.org/
  • 10. Demo with SHARE Query Engine SPARQL Query SADI Workflow "What proteins are homologous to FlyBase protein FBpp0288804?" PREFIX FlyBase: <http://lsrn.org/FLYBASE:> PREFIX sio: <http://semanticscience.org/resource/> SELECT ?homolog WHERE { # SIO_000332 = 'is about' FlyBase:FBpp0288804 sio:SIO_000332 ?protein . # SIO_000205 = 'is represented by' ?protein sio:SIO_000205 ?sequence . # SIO_010302 = 'is homologous to' ?protein sio:SIO_010302 ?homolog . } online demo: http://biordf.net/cardioSHARE/query