diff options
Diffstat (limited to 'examples')
| -rwxr-xr-x | examples/classification.scm | 99 | ||||
| -rwxr-xr-x | examples/datasets.scm | 50 | ||||
| -rwxr-xr-x | examples/generif.scm | 25 | ||||
| -rwxr-xr-x | examples/genotype-datasets.scm | 53 | ||||
| -rwxr-xr-x | examples/genotype.scm | 70 | ||||
| -rwxr-xr-x | examples/molecular-traits-datasets.scm | 25 | ||||
| -rwxr-xr-x | examples/ontology.scm | 324 | ||||
| -rwxr-xr-x | examples/phenotype-datasets.scm | 109 | ||||
| -rwxr-xr-x | examples/phenotype.scm | 167 | ||||
| -rwxr-xr-x | examples/publication.scm | 4 | ||||
| -rwxr-xr-x | examples/schema.scm | 17 |
11 files changed, 647 insertions, 296 deletions
diff --git a/examples/classification.scm b/examples/classification.scm index 0a9631d..d44fe5d 100755 --- a/examples/classification.scm +++ b/examples/classification.scm @@ -17,30 +17,6 @@ (define-transformer gnc:species->gn:species (tables (Species) "WHERE Name != 'monkey'") - (schema-triples - (gnc:resource_classification_scheme a skos:ConceptScheme) - (gnc:resource_classification_scheme skos:prefLabel "GeneNetwork Resource Classification Scheme") - (gnc:resource_classification_scheme skos:definition "A hierarchical classification scheme for organizing GeneNetwork resources by dataset type, resource set (inbredset group), or species.") - (gnc:resource_classification_scheme xkos:numberOfLevels "4") - (gnc:resource_classification_scheme xkos:levels gnc:taxonomic_family) - (gnc:resource_classification_scheme xkos:levels gnc:species) - (gnc:resource_classification_scheme xkos:levels gnc:population_category) - (gnc:resource_classification_scheme xkos:levels gnc:set) - (gnc:population_category a xkos:ClassificationLevel) - (gnc:population_category skos:inScheme gnc:resource_classification_scheme) - (gnc:population_category xkos:previousLevel gnc:species) - (gnc:population_category xkos:nextLevel gnc:set) - (gnc:population_category skos:prefLabel "Species") - (gnc:population_category rdfs:label "Population Category") - (gnc:population_category xkos:depth "3") - (gnt:population_category skos:definition "Classification of genetic populations by breeding design and data aggregation.") - (gnc:species a xkos:ClassificationLevel) - (gnc:species skos:inScheme gnc:resource_classification_scheme) - (gnc:species xkos:previousLevel gnc:taxonomic_family) - (gnc:species xkos:nextLevel gnc:population_category) - (gnc:species skos:prefLabel "Species") - (gnc:species skos:definition "A classification level that that associates a given resource to a species in GeneNetwork.") - (gnc:species xkos:depth "2")) (triples "gnc:species" (set skos:member (string->identifier "" (remap-species-identifiers (field Species Fullname)))))) @@ -48,13 +24,6 @@ (define-transformer gnc:set->gn:set (tables (InbredSet) "WHERE public > 0 AND FullName NOT LIKE '%monkey%'") - (schema-triples - (gnc:set a xkos:ClassificationLevel) - (gnc:set skos:inScheme gnc:resource_classification_scheme) - (gnc:set xkos:previousLevel gnc:population_category) - (gnc:set skos:prefLabel "InbredSet Group") - (gnc:set skos:definition "A category representing groups of genetically related strains or individuals (inbred sets, recombinant inbred lines, etc.).") - (gnc:set xkos:depth "4")) (triples "gnc:set" (set skos:member (string->identifier @@ -63,22 +32,6 @@ (define-transformer gnc:species->metadata (tables (Species) "WHERE Name != 'monkey'") - (schema-triples - (gnt:has_uniprot_taxon_id a owl:ObjectProperty) - (gnt:has_uniprot_taxon_id rdfs:label "has uniprot taxonomic id") - (gnt:has_taxonomic_family a owl:ObjectProperty) - (gnt:has_taxonomic_family rdfs:label "has family") - (gnt:has_taxonomic_family skos:definition "Links a species to its taxonomic family") - (gnt:has_taxonomic_family schema:domainIncludes gnc:species) - (gnt:has_taxonomic_family schema:domainIncludes gnc:set) - (gnt:short_name a owl:DatatypeProperty) - (gnt:short_name rdfs:label "has short name") - (gnt:short_name rdfs:domain gnc:species) - (gnt:short_name skos:definition "The short name of a given resource") - (gnt:has_species a owl:ObjectProperty) - (gnt:has_species rdf:comment "This resource belongs to this species") - (gnt:has_species rdfs:label "belongs to species") - (gnt:has_species rdfs:range gnc:species)) (triples (string->identifier "" (remap-species-identifiers (field Species Fullname))) (set rdf:type 'gnc:species) @@ -95,12 +48,6 @@ (tables (InbredSet (left-join Species "ON InbredSet.SpeciesId=Species.Id")) "WHERE public > 0 AND Species.Name != 'monkey'") - (schema-triples - (gnt:has_strain a owl:ObjectProperty) - (gnt:has_strain rdfs:range gnc:set) - (gnt:has_strain rdfs:domain gnc:species) - (gnt:has_strain rdfs:label "this resource belongs to this strain.") - (gnt:has_strain skos:definition "Lists all strains that belong to this resource.")) (triples (string->identifier "" (remap-species-identifiers (field Species Fullname))) (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")))) @@ -108,15 +55,6 @@ (define-transformer gn:family->gn:species/metadata (tables (Species) "WHERE Name != 'monkey' GROUP BY FAMILY") - (schema-triples - (gnc:taxonomic_family a xkos:ClassificationLevel) - (gnc:taxonomic_family skos:inScheme gnc:resource_classification_scheme) - (gnc:taxonomic_family skos:prefLabel "Family") - (gnc:taxonomic_family skos:definition "An organizational classification level used in GeneNetwork to group resources into families.") - (gnc:taxonomic_family xkos:depth "1") - (gnc:taxonomic_family xkos:nextLevel gnc:species) - (gnt:has_family_order_id a owl:DatatypeProperty) - (gnt:has_family_order_id rdfs:range xsd:integer)) (triples (string->identifier "family" (field Species Family) #:separator "_") (set gnt:has_species (string->identifier "" (remap-species-identifiers (field Species Fullname)))) @@ -128,8 +66,6 @@ (define-transformer gn:family->gn:species (tables (Species) "WHERE Name != 'monkey'") - (schema-triples - (gnt:has_family_order_id a owl:DatatypeProperty)) (triples (string->identifier "family" (field Species Family) #:separator "_") (set gnt:has_species (string->identifier "" (remap-species-identifiers (field Species Fullname)))))) @@ -141,34 +77,12 @@ (left-join MappingMethod "ON InbredSet.MappingMethodId=MappingMethod.Id")) "WHERE public > 0 AND Species.Name != 'monkey'") - (schema-triples - (gnt:genetic_type a owl:DatatypeProperty) - (gnt:genetic_type rdfs:label "has genetic type") - (gnt:genetic_type skos:definition "Describes the genetic architecture of a resource set (e.g., intercross, riset).") - (gnt:genetic_type rdfs:domain gnc:set) - (gnt:genetic_type rdfs:range xsd:string) - (gnt:has_set_code a owl:DatatypeProperty) - (gnt:has_set_code rdfs:label "has set code") - (gnt:has_set_code skos:definition "Provides a unique identifier code for a resource set.") - (gnt:has_set_code rdfs:domain gnc:set) - (gnt:has_set_code rdfs:range xsd:string) - (gnt:uses_mapping_method a owl:ObjectProperty) - (gnt:uses_mapping_method rdfs:label "mapping method") - (gnt:uses_mapping_method rdfs:domain gnc:set) - (gnt:uses_mapping_method rdfs:range gnc:mapping_method) - (gnt:uses_mapping_method rdfs:comment "The method used to map genetic or experimental data for this resource.") - (gnt:has_strain a owl:ObjectProperty) - (gnt:has_strain rdf:comment "Indicates the group the resources belongs to") - (gnt:has_strain schema:domainIncludes dcat:Dataset) - (gnt:has_strain schema:domainIncludes gnc:species) - (gnt:has_strain rdfs:range gnc:set) - (gnt:has_strain rdfs:label "belongs-to-group")) (triples (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_") (set rdf:type 'gnc:set) (set rdfs:label (field InbredSet FullName)) (set skos:prefLabel (field InbredSet Name InbredSetName)) (set gnt:genetic_type (field InbredSet GeneticType)) - (set dct:description (annotate-field (sanitize-rdf-string (field InbredSet description)) + (set dct:description (annotate-field (sanitize-rdf-string (field InbredSet Description)) '^^rdf:HTML)) (set gnt:uses_mapping_method (string->identifier "mapping_method" (field MappingMethod Name) #:separator "_")) @@ -191,11 +105,6 @@ (define-transformer gn:population->metadata (tables (InbredSet) "WHERE Family IS NOT NULL AND FullName NOT LIKE '%monkey%' GROUP BY Family") - (schema-triples - (gnc:reference_population a skos:Concept) - (gnc:reference_population skos:inScheme gnc:population_category) - (gnc:reference_population skos:prefLabel "Reference population") - (gnc:reference_population skos:definition "A genetic population")) (triples (string->identifier "population" (field InbredSet Family) #:separator "_") (set rdf:type 'gnc:reference_population) (set rdfs:label (field InbredSet Family)) @@ -221,10 +130,6 @@ (define-transformer gnc:taxonomic_family->gn:family (tables (Species) "WHERE Name != 'monkey' GROUP BY Family") - (schema-triples - (gnt:assigned_species rdfs:domain gnc:set) - (gnt:assigned_species a owl:ObjectProperty) - (gnt:assigned_species rdfs:label "These families have been assigned to these species")) (triples "gnc:taxonomic_family" (set gnt:has_taxonomic_family (string->identifier "family" (field Species Family) #:separator "_")))) @@ -244,7 +149,7 @@ read))) (with-documentation - (name "Species Metadata") + (name "GN Classification Hierarchy") (connection %connection-settings) (table-metadata? #f) (prefixes diff --git a/examples/datasets.scm b/examples/datasets.scm index 8abb84f..85a5aee 100755 --- a/examples/datasets.scm +++ b/examples/datasets.scm @@ -21,58 +21,11 @@ ;; Skip monkey datasets "WHERE InfoFiles.InfoPageName NOT LIKE 'INIA_MacFas_%'" "GROUP BY Datasets.DatasetId") - (schema-triples - (gnt:has_case_info a owl:ObjectProperty) - (gnt:has_case_info rdfs:comment "Information about the cases used in this platform") - (gnt:has_case_info rdfs:domain dcat:Dataset) - (gnt:has_case_info rdfs:label "About Case") - (gnt:has_citation a owl:ObjectProperty) - (gnt:has_citation rdfs:comment "Citation for this dataset") - (gnt:has_citation rdfs:domain dcat:Dataset) - (gnt:has_citation rdfs:label "Citation") - (gnt:has_contributors a owl:ObjectProperty) - (gnt:has_contributors rdfs:comment "Contributors of this resource") - (gnt:has_contributors rdfs:comment "Contributors of this resource") - (gnt:has_contributors rdfs:domain dcat:Dataset) - (gnt:has_contributors rdfs:label "Contributors") - (gnt:has_data_processing_info a owl:ObjectProperty) - (gnt:has_data_processing_info rdfs:comment "Information about how this dataset was processed") - (gnt:has_data_processing_info rdfs:domain dcat:Dataset) - (gnt:has_data_processing_info rdfs:label "About Data Processing") - (gnt:has_experiment_design a owl:ObjectProperty) - (gnt:has_experiment_design rdfs:comment "Experiment Design for this resource") - (gnt:has_experiment_design rdfs:domain dcat:Dataset) - (gnt:has_experiment_design rdfs:label "Experiment Design") - (gnt:has_experiment_design_info a owl:ObjectProperty) - (gnt:has_experiment_design_info rdfs:comment "Information about how the experiment was designed") - (gnt:has_experiment_design_info rdfs:domain dcat:Dataset) - (gnt:has_experiment_design_info rdfs:label "Experiment Design") - (gnt:has_experiment_type a owl:ObjectProperty) - (gnt:has_experiment_type rdfs:comment "Information about the experiment type") - (gnt:has_experiment_type rdfs:domain dcat:Dataset) - (gnt:has_experiment_type rdfs:label "Experiment Type Metadata") - (gnt:has_platform_info a owl:ObjectProperty) - (gnt:has_platform_info rdfs:comment "Information about the platform that was used with this dataset") - (gnt:has_platform_info rdfs:domain dcat:Dataset) - (gnt:has_platform_info rdfs:label "About Platform") - (gnt:has_samples a owl:ObjectProperty) - (gnt:has_samples rdfs:domain dcat:Dataset) - (gnt:has_samples rdfs:label "Samples") - (gnt:has_specifics a owl:ObjectProperty) - (gnt:has_specifics rdfs:comment "Has specifics") - (gnt:has_specifics rdfs:domain dcat:Dataset) - (gnt:has_specifics rdfs:label "Specifics") - (gnt:has_summary a owl:ObjectProperty) - (gnt:has_summary rdfs:comment "Summary information about dataset") - (gnt:has_summary rdfs:domain dcat:Dataset) - (gnt:has_summary rdfs:label "Summary") - (gnt:has_tissue_info a owl:ObjectProperty) - (gnt:has_tissue_info rdfs:domain dcat:Dataset) - (gnt:has_tissue_info rdfs:label "Metadata about Tissue for this resource")) (triples (string->identifier "dataset" (field InfoFiles InfoPageName) #:separator "_") (set rdf:type 'dcat:Dataset) (set dct:title (normalize-string-field (field InfoFiles InfoPageName))) (set dct:identifier (format #f "GN~a" (field InfoFiles GN_AccesionId))) + (set gnt:has_genotype_files (string->symbol (format #f "gn-files:GN~a%2F" (field InfoFiles GN_AccesionId)))) (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")) (set gnt:has_experiment_type @@ -153,6 +106,7 @@ ("gn:" "<http://rdf.genenetwork.org/v1/id/>") ("gnc:" "<http://rdf.genenetwork.org/v1/category/>") ("gnt:" "<http://rdf.genenetwork.org/v1/term/>") + ("gn-files:" "<http://files.genenetwork.org/current/>") ("rdf:" "<http://www.w3.org/1999/02/22-rdf-syntax-ns#>") ("rdfs:" "<http://www.w3.org/2000/01/rdf-schema#>") ("owl:" "<http://www.w3.org/2002/07/owl#>") diff --git a/examples/generif.scm b/examples/generif.scm index 3b794fa..a4a2e4b 100755 --- a/examples/generif.scm +++ b/examples/generif.scm @@ -22,17 +22,6 @@ (left-join GeneCategory "ON GeneRIFXRef.GeneCategoryId = GeneCategory.Id")) "WHERE GeneRIF.display > 0 AND GeneRIF.comment IS NOT NULL GROUP BY GeneRIF.Id, GeneRIF.versionId, GeneRIF.symbol") - (schema-triples - (gnc:gene_wiki_entry a rdfs:Class) - (gnc:gn_wiki_entry rdfs:subClassOf gnc:gene_wiki_entry) - (gnt:initial a owl:ObjectProperty) - (gnt:initial rdfs:domain gnc:gene_wiki_entry) - (gnt:initial skos:definition "Optional user or project code or your initials") - (gnt:reason a owl:ObjectProperty) - (gnt:reason rdfs:domain gnc:gene_wiki_entry) - (gnt:reason skos:definition "The reason why this resource was modified") - (gnc:gn_wiki_entry rdfs:comment "Represents GeneRIF Entries entered from GeneNetwork") - (gnt:gene_symbol rdfs:domain gnc:gn_wiki_entry)) (triples (string->identifier "wiki" (format #f "~a_~a" @@ -61,11 +50,12 @@ GROUP BY GeneRIF.Id, GeneRIF.versionId, GeneRIF.symbol") (format #f "pubmed:~a" (string-trim-both pmid)))))) (string-split (field GeneRIF PubMed_ID PMID) #\space))) - (set foaf:mbox - (match (sanitize-rdf-string (field GeneRIF email)) - ((? string-blank? mbox) "") - (mbox (string->symbol - (format #f "<~a>" mbox))))) + ;; Hide e-mail for now. + ;; (set foaf:mbox + ;; (match (sanitize-rdf-string (field GeneRIF email)) + ;; ((? string-blank? mbox) "") + ;; (mbox (string->symbol + ;; (format #f "<~a>" mbox))))) (set dct:identifier (annotate-field (format #f "~s" (field GeneRIF Id)) '^^xsd:integer)) (set foaf:homepage @@ -86,9 +76,6 @@ GROUP BY GeneRIF.Id, GeneRIF.versionId, GeneRIF.symbol") (define-transformer ncbi-genewiki-entries (tables (GeneRIF_BASIC (left-join Species "USING (SpeciesId)"))) - (schema-triples - (gnc:ncbi_wiki_entry rdfs:subClassOf gnc:gene_wiki_entry) - (gnc:ncbi_wiki_entry rdfs:comment "Represents GeneRIF Entries obtained from NCBI")) (triples (string->identifier "rif" (format #f "~a_~a_~a_~a" diff --git a/examples/genotype-datasets.scm b/examples/genotype-datasets.scm index f140600..ebe2349 100755 --- a/examples/genotype-datasets.scm +++ b/examples/genotype-datasets.scm @@ -15,29 +15,39 @@ (define-transformer gn:set->gn:dataset - (tables (Datasets - (inner-join InfoFiles "ON InfoFiles.DatasetId = Datasets.DatasetId") - (inner-join InbredSet "ON InbredSet.Id = InfoFiles.InbredSetId") + (tables (Species + (inner-join InbredSet "ON InbredSet.SpeciesId = Species.Id") (inner-join GenoFreeze "ON GenoFreeze.InbredSetId = InbredSet.Id")) - "WHERE GenoFreeze.public > 0 GROUP BY Datasets.DatasetId") - (schema-triples - (gnt:has_genotype_data rdf:type owl:ObjectProperty) - (gnt:has_genotype_data rdfs:label "this resources has genotype data.") - (gnt:has_genotype_data rdfs:comment "Associates a resource with its genotype data.") - (gnt:has_genotype_data rdfs:domain gnc:set) - (gnt:has_genotype_data rdfs:range dcat:Dataset) - (gnt:has_genotype_data rdfs:subPropertyOf dct:relation)) + "WHERE GenoFreeze.public > 0 AND Species.Name != 'monkey' GROUP BY Species.Name, GenoFreeze.ShortName") (triples (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_") - (set gnt:has_genotype_data (string->identifier "dataset" (field GenoFreeze Name) #:separator "_")))) + (multiset gnt:has_genotype_data + (map (cut string->identifier "dataset" <> #:separator "_") + (string-split + (field ("GROUP_CONCAT(GenoFreeze.Name SEPARATOR ',')" + dataset_name)) + #\,))))) -(define-transformer gn:dataset->gn:set - (tables (Datasets - (inner-join InfoFiles "ON InfoFiles.DatasetId = Datasets.DatasetId") - (inner-join InbredSet "ON InbredSet.Id = InfoFiles.InbredSetId") - (inner-join GenoFreeze "ON GenoFreeze.InbredSetId = InbredSet.Id")) - "WHERE GenoFreeze.public > 0 GROUP BY Datasets.DatasetId") +(define-transformer gn:dataset->metadata + (tables (GenoFreeze + (inner-join InbredSet "ON InbredSet.Id = GenoFreeze.InbredSetId") + (inner-join Species "ON InbredSet.SpeciesId = Species.Id")) + "WHERE GenoFreeze.public > 0 AND Species.Name != 'monkey'") + (triples (string->identifier "dataset" (field GenoFreeze Name) #:separator "_") + (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")) + (set dct:created (annotate-field (field GenoFreeze CreateTime) '^^xsd:datetime)))) + +(define-transformer gn:dataset->marker/snp-count + (tables (GenoFreeze + (inner-join InbredSet "ON InbredSet.Id = GenoFreeze.InbredSetId") + (inner-join Species "ON InbredSet.SpeciesId = Species.Id") + (inner-join Geno "ON Geno.SpeciesId = Species.Id")) + "WHERE GenoFreeze.public > 0 AND Species.Name != 'monkey' GROUP BY GenoFreeze.Name") (triples (string->identifier "dataset" (field GenoFreeze Name) #:separator "_") - (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")))) + (set gnt:has_marker_count + (string->symbol + (format #f "'~s'^^xsd:integer" + (field + ("COUNT(DISTINCT Geno.Marker_Name)" MarkerCount))))))) (let* ((option-spec @@ -68,7 +78,10 @@ ("xkos:" "<http://rdf-vocabulary.ddialliance.org/xkos#>") ("xsd:" "<http://www.w3.org/2001/XMLSchema#>"))) (inputs - (list gn:set->gn:dataset gn:dataset->gn:set)) + (list + gn:set->gn:dataset + gn:dataset->metadata + gn:dataset->marker/snp-count)) (outputs `(#:documentation ,documentation #:rdf ,output)))) diff --git a/examples/genotype.scm b/examples/genotype.scm new file mode 100755 index 0000000..f2ba75f --- /dev/null +++ b/examples/genotype.scm @@ -0,0 +1,70 @@ +#! /usr/bin/env guile +!# + +(use-modules (rnrs programs) + (rnrs io ports) + (srfi srfi-1) + (srfi srfi-26) + (ice-9 getopt-long) + (ice-9 match) + (ice-9 regex) + (transform strings) + (transform sql) + (transform triples) + (transform special-forms)) + +(define-transformer gn:markers/snps->metadata + (tables (Geno + (inner-join Species "ON Geno.SpeciesId = Species.Id")) + "WHERE Species.Name != 'monkey'") + (triples (string->identifier "marker" (field Geno Name) #:separator "_") + (set gnt:has_species + (string->identifier "" (remap-species-identifiers (field Species Fullname)))) + (set rdf:type 'gnc:dna_marker) + (set skos:prefLabel (field Geno Name)) + (set skos:altLabel (field Geno Marker_Name)) + (set gnt:chr (field Geno Chr)) + (set gnt:mb (annotate-field (field Geno Mb) '^^xsd:double)) + (set gnt:sequence (field Geno Sequence)) + (set gnt:source (field Geno Source)) + (set rdfs:comment (field Geno Comments)))) + + + +(let* ((option-spec + '((settings (single-char #\s) (value #t)) + (output (single-char #\o) (value #t)) + (documentation (single-char #\d) (value #t)))) + (options (getopt-long (command-line) option-spec)) + (settings (option-ref options 'settings #f)) + (output (option-ref options 'output #f)) + (documentation (option-ref options 'documentation #f)) + (%connection-settings + (call-with-input-file settings + read))) + (with-documentation + (name "Phenotypes Metadata") + (connection %connection-settings) + (table-metadata? #f) + (prefixes + '(("dcat:" "<http://www.w3.org/ns/dcat#>") + ("dct:" "<http://purl.org/dc/terms/>") + ("gn:" "<http://rdf.genenetwork.org/v1/id/>") + ("owl:" "<http://www.w3.org/2002/07/owl#>") + ("gnc:" "<http://rdf.genenetwork.org/v1/category/>") + ("gnd:" "<https://cd.genenetwork.org/lmdb/v1/data/traits/>") + ("gnt:" "<http://rdf.genenetwork.org/v1/term/>") + ("sdmx-measure:" "<http://purl.org/linked-data/sdmx/2009/measure#>") + ("skos:" "<http://www.w3.org/2004/02/skos/core#>") + ("rdf:" "<http://www.w3.org/1999/02/22-rdf-syntax-ns#>") + ("rdfs:" "<http://www.w3.org/2000/01/rdf-schema#>") + ("xsd:" "<http://www.w3.org/2001/XMLSchema#>") + ("qb:" "<http://purl.org/linked-data/cube#>") + ("xkos:" "<http://rdf-vocabulary.ddialliance.org/xkos#>") + ("pubmed:" "<http://rdf.ncbi.nlm.nih.gov/pubmed/>"))) + (inputs + (list gn:markers/snps->metadata)) + (outputs + `(#:documentation ,documentation + #:rdf ,output)))) + diff --git a/examples/molecular-traits-datasets.scm b/examples/molecular-traits-datasets.scm index 77bba08..34ddf3a 100755 --- a/examples/molecular-traits-datasets.scm +++ b/examples/molecular-traits-datasets.scm @@ -14,11 +14,6 @@ (define-transformer gn:molecular-trait->gn:dataset (tables (Tissue)) - (schema-triples - (gnc:molecular_trait a owl:Class) - (gnc:molecular_trait a skos:Concept) - (gnc:molecular_trait rdfs:subClassOf obo:UBERON_0000479) - (gnc:molecular_trait rdfs:label "Molecular Trait. This describes a melecular trait of a given species. We combine the species name and the tissue name in order to differentiate the traits across different inbredset groups.")) (triples (string->identifier "trait" (field Tissue Short_Name) #:separator "_") (set rdf:type 'gnc:molecular_trait) (set skos:prefLabel (field Tissue Name)) @@ -36,13 +31,6 @@ (inner-join ProbeSetFreeze "ON ProbeSetFreeze.ProbeFreezeId = ProbeFreeze.Id") (inner-join Tissue "ON ProbeFreeze.TissueId = Tissue.Id")) "WHERE ProbeSetFreeze.public > 0 AND Species.Name != 'monkey' GROUP BY Species.Name, Tissue.Short_Name") - (schema-triples - (gnt:has_probeset_data rdf:type owl:ObjectProperty) - (gnt:has_probeset_data rdfs:label "this resources has this probeset data.") - (gnt:has_probeset_data rdfs:comment "Associates a resource with this probeset data.") - (gnt:has_probeset_data rdfs:domain gnc:set) - (gnt:has_probeset_data rdfs:range gnc:molecular_trait) - (gnt:has_probeset_data rdfs:subPropertyOf dct:relation)) (triples (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_") (multiset gnt:has_probeset_data (map (cut string->identifier "dataset" <> #:separator "_") @@ -62,20 +50,9 @@ (inner-join Datasets "ON InfoFiles.DatasetId = Datasets.DatasetId") (left-join GeneChip "ON GeneChip.Id = InfoFiles.GeneChipId")) "WHERE ProbeSetFreeze.public > 0 AND Species.Name != 'monkey'") - (schema-triples - (gnt:has_molecular_trait rdf:type owl:ObjectProperty) - (gnt:has_molecular_trait rdfs:domain gnc:set) - (gnt:has_molecular_trait rdfs:range gnc:molecular_trait) - (gnt:has_molecular_trait rdfs:label "has molecular trait") - (gnt:uses_genechip a owl:ObjectProperty) - (gnt:uses_genechip rdfs:domain dcat:Dataset) - (gnt:uses_genechip skos:definition "The Platform this resource uses..") - (gnt:uses_normalization_method rdfs:comment "The normalization method used for the molecular traits in this dataset") - (gnt:uses_normalization_method rdfs:domain dcat:Dataset) - (gnt:uses_normalization_method rdfs:label "Averaging method used for the molecular traits in this dataset.") - (gnt:uses_normalization_method rdfs:range gnc:avg_method)) (triples (string->identifier "dataset" (field ProbeSetFreeze Name) #:separator "_") (set dct:created (annotate-field (field ProbeSetFreeze CreateTime) '^^xsd:datetime)) + (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")) (set gnt:uses_normalization_method (string->identifier "avg_method" (field AvgMethod Name AvgMethodName) #:separator "_")) (set gnt:has_molecular_trait diff --git a/examples/ontology.scm b/examples/ontology.scm new file mode 100755 index 0000000..f2b54cc --- /dev/null +++ b/examples/ontology.scm @@ -0,0 +1,324 @@ +#! /usr/bin/env guile +!# + +(use-modules (ice-9 getopt-long) + (transform triples) + (transform schema) + (transform special-forms)) + +(let* ((option-spec + '((settings (single-char #\s) (value #t)) + (output (single-char #\o) (value #t)) + (documentation (single-char #\d) (value #t)))) + (options (getopt-long (command-line) option-spec)) + (settings (option-ref options 'settings #f)) + (output (option-ref options 'output #f)) + (documentation (option-ref options 'documentation #f)) + (%connection-settings (call-with-input-file settings read))) + (with-output-to-file output + (lambda () + ;; Define all GN ontology in one place. + (prefix "dcat:" "<http://www.w3.org/ns/dcat#>") + (prefix "dct:" "<http://purl.org/dc/terms/>") + (prefix "gn:" "<http://rdf.genenetwork.org/v1/id/>") + (prefix "owl:" "<http://www.w3.org/2002/07/owl#>") + (prefix "gnc:" "<http://rdf.genenetwork.org/v1/category/>") + (prefix "gnt:" "<http://rdf.genenetwork.org/v1/term/>") + (prefix "obo:" "<http://purl.obolibrary.org/obo/>") + (prefix "sdmx-measure:" "<http://purl.org/linked-data/sdmx/2009/measure#>") + (prefix "skos:" "<http://www.w3.org/2004/02/skos/core#>") + (prefix "rdf:" "<http://www.w3.org/1999/02/22-rdf-syntax-ns#>") + (prefix "rdfs:" "<http://www.w3.org/2000/01/rdf-schema#>") + (prefix "xsd:" "<http://www.w3.org/2001/XMLSchema#>") + (prefix "qb:" "<http://purl.org/linked-data/cube#>") + (prefix "xkos:" "<http://rdf-vocabulary.ddialliance.org/xkos#>") + (prefix "pubmed:" "<http://rdf.ncbi.nlm.nih.gov/pubmed/>") + (prefix "schema:" "<https://schema.org/>") + (newline) + (triple 'gnc:population_category 'a 'xkos:ClassificationLevel) + (triple 'gnc:population_category 'rdfs:label "Population Category") + (triple 'gnc:population_category 'skos:inScheme 'gnc:resource_classification_scheme) + (triple 'gnc:population_category 'skos:prefLabel "Population Category") + (triple 'gnc:population_category 'xkos:depth "3") + (triple 'gnc:population_category 'xkos:nextLevel 'gnc:set) + (triple 'gnc:population_category 'xkos:previousLevel 'gnc:species) + (triple 'gnc:reference_population 'a 'skos:Concept) + (triple 'gnc:reference_population 'skos:definition "A genetic population") + (triple 'gnc:reference_population 'skos:inScheme 'gnc:population_category) + (triple 'gnc:reference_population 'skos:prefLabel "Reference population") + (triple 'gnc:resource_classification_scheme 'a 'skos:ConceptScheme) + (triple 'gnc:resource_classification_scheme 'skos:definition "A hierarchical classification scheme for organizing GeneNetwork resources by dataset type, resource set (inbredset group), or species.") + (triple 'gnc:resource_classification_scheme 'skos:prefLabel "GeneNetwork Resource Classification Scheme") + (triple 'gnc:resource_classification_scheme 'xkos:levels 'gnc:population_category) + (triple 'gnc:resource_classification_scheme 'xkos:levels 'gnc:set) + (triple 'gnc:resource_classification_scheme 'xkos:levels 'gnc:species) + (triple 'gnc:resource_classification_scheme 'xkos:levels 'gnc:taxonomic_family) + (triple 'gnc:resource_classification_scheme 'xkos:numberOfLevels "4") + (triple 'gnc:set 'a 'xkos:ClassificationLevel) + (triple 'gnc:set 'skos:definition "A category representing groups of genetically related strains or individuals (inbred sets, recombinant inbred lines, etc.).") + (triple 'gnc:set 'skos:inScheme 'gnc:resource_classification_scheme) + (triple 'gnc:set 'skos:prefLabel "InbredSet Group") + (triple 'gnc:set 'xkos:depth "4") + (triple 'gnc:set 'xkos:previousLevel 'gnc:population_category) + (triple 'gnc:species 'a 'xkos:ClassificationLevel) + (triple 'gnc:species 'skos:definition "A classification level that that associates a given resource to a species in GeneNetwork.") + (triple 'gnc:species 'skos:inScheme 'gnc:resource_classification_scheme) + (triple 'gnc:species 'skos:prefLabel "Species") + (triple 'gnc:species 'xkos:depth "2") + (triple 'gnc:species 'xkos:nextLevel 'gnc:population_category) + (triple 'gnc:species 'xkos:previousLevel 'gnc:taxonomic_family) + (triple 'gnc:taxonomic_family 'a 'xkos:ClassificationLevel) + (triple 'gnc:taxonomic_family 'skos:definition "An organizational classification level used in GeneNetwork to group resources into families.") + (triple 'gnc:taxonomic_family 'skos:inScheme 'gnc:resource_classification_scheme) + (triple 'gnc:taxonomic_family 'skos:prefLabel "Family") + (triple 'gnc:taxonomic_family 'xkos:depth "1") + (triple 'gnc:taxonomic_family 'xkos:nextLevel 'gnc:species) + (triple 'gnt:assigned_species 'a 'owl:ObjectProperty) + (triple 'gnt:assigned_species 'rdfs:domain 'gnc:set) + (triple 'gnt:assigned_species 'rdfs:label "These families have been assigned to these species") + (triple 'gnt:genetic_type 'a 'owl:DatatypeProperty) + (triple 'gnt:genetic_type 'rdfs:domain 'gnc:set) + (triple 'gnt:genetic_type 'rdfs:label "has genetic type") + (triple 'gnt:genetic_type 'rdfs:range 'xsd:string) + (triple 'gnt:genetic_type 'skos:definition "Describes the genetic architecture of a resource set (e.g., intercross, riset).") + (triple 'gnt:has_family_order_id 'a 'owl:DatatypeProperty) + (triple 'gnt:has_family_order_id 'a 'owl:DatatypeProperty) + (triple 'gnt:has_family_order_id 'rdfs:range 'xsd:integer) + (triple 'gnt:has_set_code 'a 'owl:DatatypeProperty) + (triple 'gnt:has_set_code 'rdfs:domain 'gnc:set) + (triple 'gnt:has_set_code 'rdfs:label "has set code") + (triple 'gnt:has_set_code 'rdfs:range 'xsd:string) + (triple 'gnt:has_set_code 'skos:definition "Provides a unique identifier code for a resource set.") + (triple 'gnt:has_species 'a 'owl:ObjectProperty) + (triple 'gnt:has_species 'rdf:comment "This resource belongs to this species") + (triple 'gnt:has_species 'rdfs:label "belongs to species") + (triple 'gnt:has_species 'rdfs:range 'gnc:species) + (triple 'gnt:has_strain 'a 'owl:ObjectProperty) + (triple 'gnt:has_strain 'rdf:comment "Indicates the group the resources belongs to") + (triple 'gnt:has_strain 'rdfs:domain 'gnc:species) + (triple 'gnt:has_strain 'rdfs:label "this resource belongs to this strain.") + (triple 'gnt:has_strain 'rdfs:range 'gnc:set) + (triple 'gnt:has_strain 'schema:domainIncludes 'dcat:Dataset) + (triple 'gnt:has_strain 'schema:domainIncludes 'gnc:species) + (triple 'gnt:has_strain 'skos:definition "Lists all strains that belong to this resource.") + (triple 'gnt:has_taxonomic_family 'a 'owl:ObjectProperty) + (triple 'gnt:has_taxonomic_family 'rdfs:label "has family") + (triple 'gnt:has_taxonomic_family 'schema:domainIncludes 'gnc:set) + (triple 'gnt:has_taxonomic_family 'schema:domainIncludes 'gnc:species) + (triple 'gnt:has_taxonomic_family 'skos:definition "Links a species to its taxonomic family") + (triple 'gnt:has_uniprot_taxon_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_uniprot_taxon_id 'rdfs:label "has uniprot taxonomic id") + (triple 'gnt:population_category 'skos:definition "Classification of genetic populations by breeding design and data aggregation.") + (triple 'gnt:short_name 'a 'owl:DatatypeProperty) + (triple 'gnt:short_name 'rdfs:domain 'gnc:species) + (triple 'gnt:short_name 'rdfs:label "has short name") + (triple 'gnt:short_name 'skos:definition "The short name of a given resource") + (triple 'gnt:uses_mapping_method 'a 'owl:ObjectProperty) + (triple 'gnt:uses_mapping_method 'rdfs:comment "The method used to map genetic or experimental data for this resource.") + (triple 'gnt:uses_mapping_method 'rdfs:domain 'gnc:set) + (triple 'gnt:uses_mapping_method 'rdfs:label "mapping method") + (triple 'gnt:uses_mapping_method 'rdfs:range 'gnc:mapping_method) + + ;; Describing Datasets + (triple 'gnc:molecular_trait 'a 'owl:Class) + (triple 'gnc:molecular_trait 'a 'skos:Concept) + (triple 'gnc:molecular_trait 'rdfs:label "Molecular Trait. This describes a melecular trait of a given species. We combine the species name and the tissue name in order to differentiate the traits across different inbredset groups.") + (triple 'gnc:molecular_trait 'rdfs:subClassOf 'obo:UBERON_0000479) + (triple 'gnt:has_case_info 'a 'owl:ObjectProperty) + (triple 'gnt:has_case_info 'rdfs:comment "Information about the cases used in this platform") + (triple 'gnt:has_case_info 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_case_info 'rdfs:label "About Case") + (triple 'gnt:has_citation 'a 'owl:ObjectProperty) + (triple 'gnt:has_citation 'rdfs:comment "Citation for this dataset") + (triple 'gnt:has_citation 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_citation 'rdfs:label "Citation") + (triple 'gnt:has_contributors 'a 'owl:ObjectProperty) + (triple 'gnt:has_contributors 'rdfs:comment "Contributors of this resource") + (triple 'gnt:has_contributors 'rdfs:comment "Contributors of this resource") + (triple 'gnt:has_contributors 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_contributors 'rdfs:label "Contributors") + (triple 'gnt:has_data_processing_info 'a 'owl:ObjectProperty) + (triple 'gnt:has_data_processing_info 'rdfs:comment "Information about how this dataset was processed") + (triple 'gnt:has_data_processing_info 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_data_processing_info 'rdfs:label "About Data Processing") + (triple 'gnt:has_experiment_design 'a 'owl:ObjectProperty) + (triple 'gnt:has_experiment_design 'rdfs:comment "Experiment Design for this resource") + (triple 'gnt:has_experiment_design 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_experiment_design 'rdfs:label "Experiment Design") + (triple 'gnt:has_experiment_design_info 'a 'owl:ObjectProperty) + (triple 'gnt:has_experiment_design_info 'rdfs:comment "Information about how the experiment was designed") + (triple 'gnt:has_experiment_design_info 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_experiment_design_info 'rdfs:label "Experiment Design") + (triple 'gnt:has_experiment_type 'a 'owl:ObjectProperty) + (triple 'gnt:has_experiment_type 'rdfs:comment "Information about the experiment type") + (triple 'gnt:has_experiment_type 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_experiment_type 'rdfs:label "Experiment Type Metadata") + (triple 'gnt:has_molecular_trait 'rdf:type 'owl:ObjectProperty) + (triple 'gnt:has_molecular_trait 'rdfs:domain 'gnc:set) + (triple 'gnt:has_molecular_trait 'rdfs:label "has molecular trait") + (triple 'gnt:has_molecular_trait 'rdfs:range 'gnc:molecular_trait) + (triple 'gnt:has_phenotype_data 'rdf:type 'owl:ObjectProperty) + (triple 'gnt:has_phenotype_data 'rdfs:comment "Associates a resource with its phenotype data.") + (triple 'gnt:has_phenotype_data 'rdfs:domain 'gnc:set) + (triple 'gnt:has_phenotype_data 'rdfs:label "this resources has this phenotype data.") + (triple 'gnt:has_phenotype_data 'rdfs:range 'dcat:Dataset) + (triple 'gnt:has_phenotype_data 'rdfs:subPropertyOf 'dct:relation) + (triple 'gnt:has_platform_info 'a 'owl:ObjectProperty) + (triple 'gnt:has_platform_info 'rdfs:comment "Information about the platform that was used with this dataset") + (triple 'gnt:has_platform_info 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_platform_info 'rdfs:label "About Platform") + (triple 'gnt:has_probeset_data 'rdf:type 'owl:ObjectProperty) + (triple 'gnt:has_probeset_data 'rdfs:comment "Associates a resource with this probeset data.") + (triple 'gnt:has_probeset_data 'rdfs:domain 'gnc:set) + (triple 'gnt:has_probeset_data 'rdfs:label "this resources has this probeset data.") + (triple 'gnt:has_probeset_data 'rdfs:range 'gnc:molecular_trait) + (triple 'gnt:has_probeset_data 'rdfs:subPropertyOf 'dct:relation) + (triple 'gnt:has_samples 'a 'owl:ObjectProperty) + (triple 'gnt:has_samples 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_samples 'rdfs:label "Samples") + (triple 'gnt:has_specifics 'a 'owl:ObjectProperty) + (triple 'gnt:has_specifics 'rdfs:comment "Has specifics") + (triple 'gnt:has_specifics 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_specifics 'rdfs:label "Specifics") + (triple 'gnt:has_summary 'a 'owl:ObjectProperty) + (triple 'gnt:has_summary 'rdfs:comment "Summary information about dataset") + (triple 'gnt:has_summary 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_summary 'rdfs:label "Summary") + (triple 'gnt:has_tissue_info 'a 'owl:ObjectProperty) + (triple 'gnt:has_tissue_info 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_tissue_info 'rdfs:label "Metadata about Tissue for this resource") + (triple 'gnt:uses_genechip 'a 'owl:ObjectProperty) + (triple 'gnt:uses_genechip 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:uses_genechip 'skos:definition "The Platform this resource uses..") + (triple 'gnt:uses_normalization_method 'rdfs:comment "The normalization method used for the molecular traits in this dataset") + (triple 'gnt:uses_normalization_method 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:uses_normalization_method 'rdfs:label "Averaging method used for the molecular traits in this dataset.") + (triple 'gnt:uses_normalization_method 'rdfs:range 'gnc:avg_method) + + ;; Describing phenotypes + (triple 'gnc:phenotype 'a 'owl:Class) + (triple 'gnc:phenotype 'a 'skos:Concept) + (triple 'gnc:phenotype 'rdfs:label "A phenotype.") + (triple 'gnc:phenotype_trait 'a 'owl:Class) + (triple 'gnc:phenotype_trait 'a 'skos:Concept) + (triple 'gnc:phenotype_trait 'rdfs:label "A phenotype trait.") + (triple 'gnt:abbreviation 'a 'owl:ObjectProperty) + (triple 'gnt:abbreviation 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:abbreviation 'skos:definition "The abbreviation used for this resource") + (triple 'gnt:additive 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:additive 'rdfs:range 'xsd:double) + (triple 'gnt:lab_code 'a 'owl:ObjectProperty) + (triple 'gnt:lab_code 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:locus 'a 'qb:MeasureProperty) + (triple 'gnt:locus 'a 'rdf:Property) + (triple 'gnt:locus 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:locus 'rdfs:range 'rdfs:Literal) + (triple 'gnt:locus 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + (triple 'gnt:lod_score 'a 'qb:MeasureProperty) + (triple 'gnt:lod_score 'a 'rdf:Property) + (triple 'gnt:lod_score 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:lod_score 'rdfs:label "Peak -logP") + (triple 'gnt:lod_score 'rdfs:range 'xsd:double) + (triple 'gnt:lod_score 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + (triple 'gnt:lod_score 'skos:definition "Statistical measurement assessing the likelihood of genetic linkage between traits or genetic markers.") + (triple 'gnt:mean 'a 'qb:MeasureProperty) + (triple 'gnt:mean 'a 'rdf:Property) + (triple 'gnt:mean 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:mean 'rdfs:range 'xsd:double) + (triple 'gnt:mean 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + (triple 'gnt:sequence 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:sequence 'rdfs:range 'xsd:integer) + (triple 'gnt:submitter 'a 'owl:ObjectProperty) + (triple 'gnt:submitter 'rdfs:domain 'gnc:phenotype) + (triple 'gnt:submitter 'skos:definition "A person who submitted this resource to GN") + (triple 'gnt:submitter 'skos:definition "A person who submitted this resource to GN") + (triple 'gnt:has_phenotype_data 'a 'owl:ObjectProperty) + (triple 'gnt:has_phenotype_data 'rdfs:domain 'gnc:set) + (triple 'gnt:has_phenotype_data 'skos:definition "This resource has phenotype data.") + + ;; Genotypes + (triple 'gnc:dna_marker 'a 'owl:Class) + (triple 'gnc:dna_marker 'a 'skos:Concept) + (triple 'gnc:dna_marker 'rdfs:label "A DNA Marker or SNP") + (triple 'gnt:has_genotype_files 'rdfs:label "This resource has these genotype files") + (triple 'gnt:has_genotype_files 'rdfs:domain 'dcat:Dataset) + (triple 'gnt:has_genotype_data 'rdf:type 'owl:ObjectProperty) + (triple 'gnt:has_genotype_data 'rdfs:label "this resources has genotype data.") + (triple 'gnt:has_genotype_data 'rdfs:comment "Associates a resource with its genotype data.") + (triple 'gnt:has_genotype_data 'rdfs:domain 'gnc:set) + (triple 'gnt:has_genotype_data 'rdfs:range 'dcat:Dataset) + (triple 'gnt:has_genotype_data 'rdfs:subPropertyOf 'dct:relation) + (triple 'gnt:has_marker_count 'rdf:type 'owl:ObjectProperty) + (triple 'gnt:has_marker_count 'rdfs:label "this resources has N number of dna markers/SNPs.") + (triple 'gnt:has_marker_count 'rdfs:domain 'xsd:integer) + (triple 'gnt:has_marker_count 'rdfs:range 'dcat:Dataset) + (triple 'gnt:chr 'a 'qb:MeasureProperty) + (triple 'gnt:chr 'a 'rdf:Property) + (triple 'gnt:chr 'rdfs:label "Chromosome") + (triple 'gnt:chr 'rdfs:domain 'gnc:marker) + (triple 'gnt:chr 'rdfs:range 'rdfs:Literal) + (triple 'gnt:chr 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + (triple 'gnt:mb 'rdfs:label "Megabase") + (triple 'gnt:mb 'rdfs:domain 'gnc:marker) + (triple 'gnt:mb 'rdfs:range 'rdfs:Literal) + (triple 'gnt:mb 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + (triple 'gnt:sequence 'rdfs:label "Sequence") + (triple 'gnt:sequence 'rdfs:domain 'gnc:marker) + (triple 'gnt:sequence 'rdfs:range 'rdfs:Literal) + (triple 'gnt:sequence 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + (triple 'gnt:source 'rdfs:label "Source") + (triple 'gnt:source 'rdfs:domain 'gnc:marker) + (triple 'gnt:source 'rdfs:range 'rdfs:Literal) + (triple 'gnt:source 'rdfs:subPropertyOf 'sdmx-measure:obsValue) + + ;; Probesets + (triple 'gnc:probeset 'a 'owl:Class) + (triple 'gnc:probeset 'a 'skos:Concept) + (triple 'gnc:probeset 'rdfs:label "A probeset") + (triple 'gnt:has_target_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_target_id 'rdfs:label "The target id for this probeset") + (triple 'gnt:has_target_id 'rdfs:domain 'gnc:probeset) + (triple 'gnt:symbol 'a 'owl:ObjectProperty) + (triple 'gnt:symbol 'rdfs:domain 'gnc:probeset) + (triple 'gnt:targets_region 'a 'owl:ObjectProperty) + (triple 'gnt:targets_region 'rdfs:label "The target region") + (triple 'gnt:targets_region 'rdfs:domain 'gnc:probeset) + (triple 'gnt:mb_mm8 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_specificity 'a 'owl:ObjectProperty) + (triple 'gnt:has_specificity 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_blat_score 'a 'owl:ObjectProperty) + (triple 'gnt:has_blat_score 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_blat_mb_start 'a 'owl:ObjectProperty) + (triple 'gnt:has_blat_mb_start 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_blat_mb_end 'a 'owl:ObjectProperty) + (triple 'gnt:has_blat_mb_end 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_blat_seq 'a 'owl:ObjectProperty) + (triple 'gnt:has_blat_seq 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_target_seq 'a 'owl:ObjectProperty) + (triple 'gnt:has_target_seq 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_homologene_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_homologene_id 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_uniprot_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_uniprot_id 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_pub_chem_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_pub_chem_id 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_kegg_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_kegg_id 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_omim_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_omim_id 'rdfs:domain 'gnc:probeset) + (triple 'gnt:has_chebi_id 'a 'owl:ObjectProperty) + (triple 'gnt:has_chebi_id 'rdfs:domain 'gnc:probeset) + + ;; RIF + (triple 'gnc:gene_wiki_entry 'a 'rdfs:Class) + (triple 'gnc:gn_wiki_entry 'rdfs:subClassOf 'gnc:gene_wiki_entry) + (triple 'gnt:initial 'a 'owl:ObjectProperty) + (triple 'gnt:initial 'rdfs:domain 'gnc:gene_wiki_entry) + (triple 'gnt:initial 'skos:definition "Optional user or project code or your initials") + (triple 'gnt:reason 'a 'owl:ObjectProperty) + (triple 'gnt:reason 'rdfs:domain 'gnc:gene_wiki_entry) + (triple 'gnt:reason 'skos:definition "The reason why this resource was modified") + (triple 'gnc:gn_wiki_entry 'rdfs:comment "Represents GeneRIF Entries entered from GeneNetwork") + (triple 'gnt:gene_symbol 'rdfs:domain 'gnc:gn_wiki_entry) + (triple 'gnc:ncbi_wiki_entry 'rdfs:subClassOf 'gnc:gene_wiki_entry) + (triple 'gnc:ncbi_wiki_entry 'rdfs:comment "Represents GeneRIF Entries obtained from NCBI")))) diff --git a/examples/phenotype-datasets.scm b/examples/phenotype-datasets.scm new file mode 100755 index 0000000..4819627 --- /dev/null +++ b/examples/phenotype-datasets.scm @@ -0,0 +1,109 @@ +#! /usr/bin/env guile +!# + +(use-modules (rnrs programs) + (rnrs io ports) + (srfi srfi-1) + (srfi srfi-26) + (ice-9 getopt-long) + (ice-9 match) + (ice-9 regex) + (transform strings) + (transform sql) + (transform triples) + (transform special-forms)) + + +(define-transformer gn:set->gn:dataset + (tables (Species + (inner-join InbredSet "ON InbredSet.SpeciesId = Species.Id") + (inner-join PublishFreeze "ON PublishFreeze.InbredSetId = InbredSet.Id")) + "WHERE PublishFreeze.public > 0 AND Species.Name != 'monkey' GROUP BY Species.Name, PublishFreeze.ShortName") + (triples (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_") + (multiset gnt:has_phenotype_data + (map (cut string->identifier "dataset" <> #:separator "_") + (string-split + (field ("GROUP_CONCAT(PublishFreeze.Name SEPARATOR ',')" + dataset_name)) + #\,))))) + +(define-transformer gn:dataset->gn:set + (tables (Datasets + (inner-join InfoFiles "ON InfoFiles.DatasetId = Datasets.DatasetId") + (inner-join InbredSet "ON InbredSet.Id = InfoFiles.InbredSetId") + (inner-join PublishFreeze "ON PublishFreeze.InbredSetId = InbredSet.Id")) + "WHERE PublishFreeze.public > 0 GROUP BY Datasets.DatasetId") + (triples (string->identifier "dataset" (field PublishFreeze Name) #:separator "_") + (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")))) + +(define-transformer gn:dataset->metadata + (tables (PublishXRef + (inner-join InbredSet "ON InbredSet.InbredSetId = PublishXRef.InbredSetId") + (inner-join Species "ON InbredSet.SpeciesId = Species.Id") + (inner-join PublishFreeze "ON PublishFreeze.InbredSetId = InbredSet.Id") + (inner-join Publication "ON Publication.Id = PublishXRef.PublicationId") + (inner-join Phenotype "ON Phenotype.Id = PublishXRef.PhenotypeId")) + "WHERE InbredSet.public > 0 GROUP BY Species.Name, PublishFreeze.Name") + (triples (string->identifier "dataset" (field PublishFreeze Name) #:separator "_") + (set dct:created (annotate-field (field PublishFreeze CreateTime) '^^xsd:datetime)) + (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")))) + +(define-transformer gn:dataset->gn:trait + (tables (PublishXRef + (inner-join InbredSet "ON InbredSet.InbredSetId = PublishXRef.InbredSetId") + (inner-join Species "ON InbredSet.SpeciesId = Species.Id") + (inner-join PublishFreeze "ON PublishFreeze.InbredSetId = InbredSet.Id") + (inner-join Publication "ON Publication.Id = PublishXRef.PublicationId") + (inner-join Phenotype "ON Phenotype.Id = PublishXRef.PhenotypeId")) + "WHERE InbredSet.public > 0") + (triples (string->identifier "dataset" (field PublishFreeze Name) #:separator "_") + (set gnt:has_phenotype_trait + (let ((post-abbrev (blank-p (field Phenotype Post_publication_abbreviation))) + (pre-abbrev (blank-p (field Phenotype Pre_publication_abbreviation))) + (post-desc (blank-p (field Phenotype Post_publication_description))) + (pre-desc (blank-p (field Phenotype Post_publication_description)))) + (string->identifier + "trait" + (format #f "~a_~a" (field PublishFreeze Name) + (or post-abbrev pre-abbrev post-desc pre-desc)) + #:separator "_"))) + (set dct:created (annotate-field (field PublishFreeze CreateTime) '^^xsd:datetime)) + (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")))) + + +(let* ((option-spec + '((settings (single-char #\s) (value #t)) + (output (single-char #\o) (value #t)) + (documentation (single-char #\d) (value #t)))) + (options (getopt-long (command-line) option-spec)) + (settings (option-ref options 'settings #f)) + (output (option-ref options 'output #f)) + (documentation (option-ref options 'documentation #f)) + (%connection-settings + (call-with-input-file settings + read))) + (with-documentation + (name "Phenotype Datasets") + (connection %connection-settings) + (table-metadata? #f) + (prefixes + '(("dcat:" "<http://www.w3.org/ns/dcat#>") + ("dct:" "<http://purl.org/dc/terms/>") + ("gn:" "<http://rdf.genenetwork.org/v1/id/>") + ("gnc:" "<http://rdf.genenetwork.org/v1/category/>") + ("gnt:" "<http://rdf.genenetwork.org/v1/term/>") + ("rdf:" "<http://www.w3.org/1999/02/22-rdf-syntax-ns#>") + ("rdfs:" "<http://www.w3.org/2000/01/rdf-schema#>") + ("owl:" "<http://www.w3.org/2002/07/owl#>") + ("skos:" "<http://www.w3.org/2004/02/skos/core#>") + ("xkos:" "<http://rdf-vocabulary.ddialliance.org/xkos#>") + ("xsd:" "<http://www.w3.org/2001/XMLSchema#>"))) + (inputs + (list + gn:set->gn:dataset + gn:dataset->gn:set + gn:dataset->metadata + gn:dataset->gn:trait)) + (outputs + `(#:documentation ,documentation + #:rdf ,output)))) diff --git a/examples/phenotype.scm b/examples/phenotype.scm index 03eec45..c2564b6 100755 --- a/examples/phenotype.scm +++ b/examples/phenotype.scm @@ -14,92 +14,112 @@ (transform special-forms)) -(define-transformer phenotypes - (tables (PublishXRef - (left-join InbredSet "ON InbredSet.InbredSetId = PublishXRef.InbredSetId") - (left-join Publication "ON Publication.Id = PublishXRef.PublicationId") - (left-join Phenotype "ON Phenotype.Id = PublishXRef.PhenotypeId"))) - (schema-triples - (gnt:trait_id a owl:ObjectProperty) - (gnt:trait_id rdfs:domain gnc:phenotype) - (gnt:trait_id skos:definition "This is the unique trait id assigned from GeneNetwork") - (gnt:abbreviation a owl:ObjectProperty) - (gnt:abbreviation rdfs:domain gnc:phenotype) - (gnt:abbreviation skos:definition "The abbreviation used for this resource") - (gnt:labCode a owl:ObjectProperty) - (gnt:labCode rdfs:domain gnc:phenotype) - (gnt:submitter a owl:ObjectProperty) - (gnt:submitter rdfs:domain gnc:phenotype) - (gnt:submitter skos:definition "A person who submitted this resource to GN") - (gnt:mean a rdf:Property) - (gnt:mean a qb:MeasureProperty) - (gnt:mean rdfs:subPropertyOf sdmx-measure:obsValue) - (gnt:mean rdfs:domain gnc:phenotype) - (gnt:mean rdfs:range xsd:double) - (gnt:lod_score a rdf:Property) - (gnt:lod_score a qb:MeasureProperty) - (gnt:lod_score rdfs:subPropertyOf sdmx-measure:obsValue) - (gnt:lod_score rdfs:domain gnc:phenotype) - (gnt:lod_score rdfs:range xsd:double) - (gnt:lod_score rdfs:label "Peak -logP") - (gnt:lod_score skos:definition "Statistical measurement assessing the likelihood of genetic linkage between traits or genetic markers.") - (gnt:locus a rdf:Property) - (gnt:locus a qb:MeasureProperty) - (gnt:locus rdfs:subPropertyOf sdmx-measure:obsValue) - (gnt:locus rdfs:domain gnc:phenotype) - (gnt:locus rdfs:range rdfs:Literal) - (gnt:additive rdfs:domain gnc:phenotype) - (gnt:additive rdfs:range xsd:double) - (gnt:sequence rdfs:domain gnc:phenotype) - (gnt:sequence rdfs:range xsd:integer)) - (triples (string->identifier - "trait" - (field ("CONCAT(IFNULL(InbredSet.InbredSetCode, PublishXRef.InbredSetId), '_', PublishXRef.Id)" - Phenotype)) - #:separator "_") + + + + + + + +(define-transformer gnc:phenotype->gn:phenotype + (tables (Phenotype)) + (triples "gnc:phenotype" + (set skos:member + (let ((post-abbrev (blank-p (field Phenotype Post_publication_abbreviation))) + (pre-abbrev (blank-p (field Phenotype Pre_publication_abbreviation))) + (post-desc (blank-p (field Phenotype Post_publication_description))) + (pre-desc (blank-p (field Phenotype Post_publication_description)))) + (string->identifier + "phenotype" + (or post-abbrev pre-abbrev post-desc pre-desc) + #:separator "_"))))) + +(define-transformer gn:phenotype->metadata + (tables (Phenotype)) + (triples (let ((post-abbrev (blank-p (field Phenotype Post_publication_abbreviation))) + (pre-abbrev (blank-p (field Phenotype Pre_publication_abbreviation))) + (post-desc (blank-p (field Phenotype Post_publication_description))) + (pre-desc (blank-p (field Phenotype Post_publication_description)))) + (string->identifier + "phenotype" + (or post-abbrev pre-abbrev post-desc pre-desc) + #:separator "_")) (set rdf:type 'gnc:phenotype) - (set gnt:has_strain - (string->identifier - "set" (field InbredSet Name InbredSetName) - #:separator "_")) - ;; This is the trait's name - (set gnt:trait_id - (let ((trait-id (field PublishXRef Id))) - (if (number? trait-id) - (number->string trait-id) - trait-id))) - (set skos:altLabel - (field ("CONCAT(IFNULL(InbredSet.InbredSetCode, PublishXRef.InbredSetId), '_', PublishXRef.Id)" - Phenotype))) ;; All phenotypes have a post-publication description (set dct:description (sanitize-rdf-string (field Phenotype Post_publication_description))) ;; All phenotypes have a post-publication abbreviation - (set gnt:abbreviation (field Phenotype Post_publication_abbreviation)) - (set gnt:labCode (field Phenotype Lab_code)) + (set gnt:abbreviation (sanitize-rdf-string (field Phenotype Post_publication_abbreviation))) + (set gnt:has_lab_code (field Phenotype Lab_code)) (set gnt:submitter (sanitize-rdf-string (field Phenotype Submitter))) (set dct:contributor (sanitize-rdf-string (field Phenotype Owner))) + (set skos:member + (let ((post-abbrev (blank-p (field Phenotype Post_publication_abbreviation))) + (pre-abbrev (blank-p (field Phenotype Pre_publication_abbreviation))) + (post-desc (blank-p (field Phenotype Post_publication_description))) + (pre-desc (blank-p (field Phenotype Post_publication_description)))) + (string->identifier + "phenotype" + (or post-abbrev pre-abbrev post-desc pre-desc) + #:separator "_"))))) + +(define-transformer gn:trait->gn:phenotype + (tables (PublishXRef + (left-join InbredSet "ON InbredSet.InbredSetId = PublishXRef.InbredSetId") + (inner-join PublishFreeze "ON PublishFreeze.InbredSetId = InbredSet.Id") + (left-join Publication "ON Publication.Id = PublishXRef.PublicationId") + (left-join Phenotype "ON Phenotype.Id = PublishXRef.PhenotypeId")) + "WHERE InbredSet.public > 0") + (triples (let ((post-abbrev (blank-p (field Phenotype Post_publication_abbreviation))) + (pre-abbrev (blank-p (field Phenotype Pre_publication_abbreviation))) + (post-desc (blank-p (field Phenotype Post_publication_description))) + (pre-desc (blank-p (field Phenotype Post_publication_description)))) + (string->identifier + "trait" + (format #f "~a_~a" (field PublishFreeze Name) + (or post-abbrev pre-abbrev post-desc pre-desc)) + #:separator "_")) + (set rdf:type 'gnc:phenotype_trait) + (set gnt:has_strain (string->identifier "set" (field InbredSet Name InbredSetName) #:separator "_")) + (set owl:equivalentClass + (field ("CONCAT(PublishFreeze.Name, '_', PublishXRef.Id)" + PublishFreeze))) + (set dcat:distribution + (string->symbol + (format #f "gnd:~a.json" + (field ("CONCAT(PublishFreeze.Name, '_', PublishXRef.Id)" + PublishFreeze)))) ) + (set dct:references + (let ((pmid (field + ("IF(Publication.PubMed_ID IS NULL, '', CONVERT(Publication.PubMed_Id, INT))" + pmid))) + (publication-id (field Publication Id))) + (if (string-null? pmid) + (string->identifier "unpublished" + (number->string publication-id)) + (ontology 'pubmed: pmid)))) + (set gnt:has_phenotype + (let ((post-abbrev (blank-p (field Phenotype Post_publication_abbreviation))) + (pre-abbrev (blank-p (field Phenotype Pre_publication_abbreviation))) + (post-desc (blank-p (field Phenotype Post_publication_description))) + (pre-desc (blank-p (field Phenotype Post_publication_description)))) + (string->identifier + "phenotype" + (or post-abbrev pre-abbrev post-desc pre-desc) + #:separator "_"))) (set gnt:mean (annotate-field (field ("IFNULL(PublishXRef.mean, '')" mean)) '^^xsd:double)) (set gnt:locus (sanitize-rdf-string (field PublishXRef Locus))) (set gnt:lod_score (annotate-field - (field ("IFNULL((PublishXRef.LRS/4.604), '')" lrs)) - '^^xsd:double)) + (field ("IFNULL((PublishXRef.LRS/4.604), '')" lrs)) + '^^xsd:double)) (set gnt:additive (annotate-field (field ("IFNULL(PublishXRef.additive, '')" additive)) '^^xsd:double)) (set gnt:sequence (annotate-field (field PublishXRef Sequence) '^^xsd:integer)) - (set dct:isReferencedBy - (let ((pmid (field - ("IF(Publication.PubMed_ID IS NULL, '', CONVERT(Publication.PubMed_Id, INT))" - pmid))) - (publication-id (field Publication Id PublicationId))) - (if (string-null? pmid) - (string->identifier "unpublished" - (number->string publication-id)) - (ontology 'pubmed: pmid)))))) + (set rdfs:comment (sanitize-rdf-string (field PublishXRef comments))))) @@ -119,10 +139,12 @@ (connection %connection-settings) (table-metadata? #f) (prefixes - '(("dct:" "<http://purl.org/dc/terms/>") + '(("dcat:" "<http://www.w3.org/ns/dcat#>") + ("dct:" "<http://purl.org/dc/terms/>") ("gn:" "<http://rdf.genenetwork.org/v1/id/>") ("owl:" "<http://www.w3.org/2002/07/owl#>") ("gnc:" "<http://rdf.genenetwork.org/v1/category/>") + ("gnd:" "<https://cd.genenetwork.org/api3/lmdb/v1/data/traits/>") ("gnt:" "<http://rdf.genenetwork.org/v1/term/>") ("sdmx-measure:" "<http://purl.org/linked-data/sdmx/2009/measure#>") ("skos:" "<http://www.w3.org/2004/02/skos/core#>") @@ -133,8 +155,9 @@ ("xkos:" "<http://rdf-vocabulary.ddialliance.org/xkos#>") ("pubmed:" "<http://rdf.ncbi.nlm.nih.gov/pubmed/>"))) (inputs - (list - phenotypes)) + (list gnc:phenotype->gn:phenotype + gn:phenotype->metadata + gn:trait->gn:phenotype)) (outputs `(#:documentation ,documentation #:rdf ,output)))) diff --git a/examples/publication.scm b/examples/publication.scm index 6b57856..c411af6 100755 --- a/examples/publication.scm +++ b/examples/publication.scm @@ -13,7 +13,7 @@ -(define-transformer publication +(define-transformer publication->metadata (tables (Publication)) (triples (let ((pmid (field @@ -81,7 +81,7 @@ ("xsd:" "<http://www.w3.org/2001/XMLSchema#>") ("rdf:" "<http://www.w3.org/1999/02/22-rdf-syntax-ns#>"))) (inputs - (list publication)) + (list publication->metadata)) (outputs `(#:documentation ,documentation #:rdf ,output)))) diff --git a/examples/schema.scm b/examples/schema.scm index 4bde895..c4ff082 100755 --- a/examples/schema.scm +++ b/examples/schema.scm @@ -8,18 +8,7 @@ (transform sql) (transform table)) -(define (call-with-genenetwork-database connection-settings proc) - (call-with-database "mysql" (string-join - (list (assq-ref connection-settings 'sql-username) - (assq-ref connection-settings 'sql-password) - (assq-ref connection-settings 'sql-database) - "tcp" - (assq-ref connection-settings 'sql-host) - (number->string - (assq-ref connection-settings 'sql-port))) - ":") - proc)) - + (define (transform-table-schema connection-settings db) (let ((tables (tables connection-settings db))) (for-each (lambda (table) @@ -44,7 +33,7 @@ (table-columns table)))) tables))) - + (let* ((option-spec '((settings (single-char #\s) (value #t)) (output (single-char #\o) (value #t)) @@ -54,7 +43,7 @@ (output (option-ref options 'output #f)) (documentation (option-ref options 'documentation #f)) (%connection-settings (call-with-input-file settings read))) - (call-with-genenetwork-database + (call-with-target-database %connection-settings (lambda (db) (with-output-to-file output |