SADI for GMOD: Semantic Web Services for Model Organism Databases

SADI for GMOD: Semantic Web Services for Model Organism Databases Ben Vandervalk, Luke McCarthy, Edward Kawas, Mark WilkinsonJames Hogg Research Centre, Heart + Lung Institute University of British Columbia http://code.google.com/p/sadi/wiki/SADIforGMOD

Background

Background: Model Organism Databases • several organisms are studied extensively by biologists: e.g. yeast, mouse, fruitfly • each model organism has its own database: • sequences (DNA, RNA, protein) • sequence features (e.g. genes) • research publications • experimental results • biochemical pathways • phenotype images • evolutionary trees (for closely related species) All images were obtained from Wikipedia and are in the public domain.

Background: Sequence Features  sequence features (a.k.a. sequence annotations) are regions of a DNA or protein sequence with a certain type (e.g. gene)  in genome browsers, different types of sequence annotations are displayed in separate tracksposition on DNA sequence promoter track gene track transcript track Lincoln Stein, http://www.sequenceontology.org/gff3.shtml

Background: Sequence Features Many types ofbiological data arerepresented as sequencefeatures:  promoters  chromosome bands  genes  transcripts  CDSs  proteins  protein domains  transposons  non-coding RNAs  ESTs  many more... autogenerated image from http://flybase.org/cgi-bin/gbrowse/dmel/

Background: Distributed Annotation System (DAS) HTTP GET DAS XML DAS Server HTTP GET DAS XML DAS Server HTTP GET DAS XML DAS Server HTTP GET DAS XML DAS Server autogenerated image from http://flybase.org/cgi-bin/gbrowse/dmel/

Background: Limitations of the Distributed Annotation System (DAS)  integrating data from DAS servers requires specialized software (“DAS clients”)  other types of data (e.g. biochemical pathways, experimental results) cannot be automatically integrated with sequence feature data  most bioinformatics analysis software (e.g. BLAST) does not speak DAS

SADI for GMOD: Semantic Web Services for Model Organism Databases

SADI for GMOD: Semantic Web Services for Model Organism Databases 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 URL o e.g. $ curl --data @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 Services• 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 has part / derives collection of feature get_child_features feature description into descriptions is part of / derives collection of feature get_parent_features 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 Demo

SADI Client Software SHARE Query Engine SADI Taverna PluginSPARQL Query => SADI Workflow Design SADI Workflows http://biordf.net/cardioSHARE/query http://sadiframework.org/content/ 2010/05/03/sadi-taverna-plugin- tutorial/

Demo with SHARE Query Engine SPARQL Query SADI Workflow "What proteins are homologous to FlyBase protein FBpp0091047?"PREFIX FlyBase: <http://lsrn.org/FLYBASE:>PREFIX sio: <http://semanticscience.org/resource/>PREFIX sadi: <http://sadiframework.org/ontologies/properties.owl#>SELECT ?homologWHERE { # SIO_000332 = is about FlyBase:FBpp0091047 sio:SIO_000332 ?protein . ?protein sadi:hasSequence ?sequence . # SIO_010302 = is homologous to ?protein sio:SIO_010302 ?homolog .}

Acknowledgements Team Mark Wilkinson: Principal Investigator Luke McCarthy: Lead Programmer, SADI & SHARE Edward Kawas: Perl Programmer, SADI Funding Microsoft Research http://sadiframework.org/

SADI Training Course “Web Publishing of Scientific Data and Services” October 22nd-23rd, 2011 University of British Columbia (next door!)Learn how to:=> semantically describe service functionality in OWL=> publish Semantic Web services using the SADIframeworkMore info: http://sadiframework.org/training

Extra Slides

SADI for GMOD: Setting up the Services1. Load your GFF files into a Bio::DB::SeqFeature::Store database (mysql) 2. Install SADI for GMOD dependencies with CPAN3. Download the SADI for GMOD tarball and unpack into cgi-bin4. 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 for GMOD: Semantic Web Services for Model Organism Databases

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SADI for GMOD: Semantic Web Services for Model Organism Databases Presentation Transcript