#! /usr/bin/env guile !# (use-modules (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) (web uri)) (define-transformer genelist (tables (GeneList (left-join Species "USING (SpeciesId)")) "GROUP BY BINARY GeneSymbol, GeneId, chromosome, txStart, txEnd") (schema-triples (gnt:gene rdfs:domain gnc:GeneSymbol) (gnt:belongsToSpecies rdfs:domain gnc:GeneSymbol) (gnc:GeneSymbol a rdfs:Class) (gnc:GeneSymbol rdfs:label "Gene Symbol") (gnc:transcript rdfs:domain gnc:GeneSymbol) (gnt:transcript a owl:ObjectProperty) (gnc:transcript rdfs:comments "The gene transcript of this resource") (gnc:ebiGwasLink rdfs:Class gnc:ResourceLink) (gnc:ebiGwasLink rdfs:label "EBI GWAS") (gnc:ebiGwasLink rdfs:comments "EBI GWAS") (gnc:biogpsLink rdfs:Class gnc:ResourceLink) (gnc:biogpsLink rdfs:label "BioGPS Resource Link") (gnc:biogpsLink rdfs:comments "Expression across many tissues and cell types") (gnc:proteinAtlasLink rdfs:Class gnc:ResourceLink) (gnc:proteinAtlasLink rdfs:label "Protein Atlas") (gnc:proteinAtlasLink rdfs:comments "Human Protein Atlas") (gnc:genemaniaLink rdfs:Class gnc:ResourceLink) (gnc:genemaniaLink rdfs:label "GeneMANIA") (gnc:genemaniaLink rdfs:comments "GeneMANIA") (gnc:gemmaLink rdfs:Class gnc:ResourceLink) (gnc:gemmaLink rdfs:label "Gemma") (gnc:gemmaLink rdfs:comments "Meta-analysis of gene expression data") (gnc:gtexLink rdfs:Class gnc:ResourceLink) (gnc:gtexLink rdfs:label "GTEx Portal") (gnc:gtexLink rdfs:comments "GTEx Portal") (gnc:biogpsLink rdfs:Class gnc:ResourceLink) (gnc:biogpsLink rdfs:label "BioGPS") (gnc:biogpsLink rdfs:comments "Expression across many tissues and cell types") (gnc:abaLink rdfs:Class gnc:ResourceLink) (gnc:abaLink rdfs:label "ABA") (gnc:abaLink rdfs:comments "Allen Brain Atlas") (gnc:pantherLink rdf:type gnc:ResourceLink) (gnc:pantherLink rdfs:label "PANTHER") (gnc:pantherLink rdfs:comments "Gene and protein data resources from Celera-ABI") (gnc:stringLink rdfs:Class gnc:ResourceLink) (gnc:stringLink rdfs:label "STRING") (gnc:stringLink rdfs:comments "Protein interactions: known and inferred") (gnc:gtexLink rdfs:Class gnc:ResourceLink) (gnc:gtexLink rdfs:label "GTEx Portal") (gnc:gtexLink rdfs:comments "GTEx Portal") (gnc:rgdLink rdfs:Class gnc:ResourceLink) (gnc:rgdLink rdfs:label "Rat Genome DB") (gnc:rgdLink rdfs:comments "Rat Genome DB") (gnc:hasKgID rdfs:domain gnc:GeneSymbol) (gnt:hasKgID a owl:ObjectProperty) (gnc:hasKgID rdfs:comments "The kgID of this resource") (gnc:hasUnigenID rdfs:domain gnc:GeneSymbol) (gnt:hasUnigenID a owl:ObjectProperty) (gnc:hasUnigenID rdfs:comments "The UnigenID of this resource") (gnc:hasProteinID rdfs:domain gnc:GeneSymbol) (gnt:hasProteinID a owl:ObjectProperty) (gnc:hasProteinID rdfs:comments "The ProteinID of this resource") (gnc:hasAlignID rdfs:domain gnc:GeneSymbol) (gnt:hasAlignID a owl:ObjectProperty) (gnc:hasAlignID rdfs:comments "The AlignID of this resource") (gnt:TxEnd rdfs:range xsd:double) (gnt:TxStart rdfs:range xsd:double) (gnt:hasTargetSeq rdfs:domain gnc:Probeset)) (triples (string->identifier "gene" (regexp-substitute/global #f "[^A-Za-z0-9:]" (string-trim-both (field GeneList GeneSymbol)) 'pre "_" 'post)) (set rdf:type 'gnc:GeneSymbol) (set rdfs:label (field GeneList GeneSymbol)) (set dct:description (sanitize-rdf-string (field GeneList GeneDescription))) (set gnt:gene (ontology 'gene: (field GeneList GeneId))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "https://www.ebi.ac.uk/gwas/search?query=" (uri-encode (string-trim-both symbol)) "a gnc:ebiGwasLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol))) (geneId (field GeneList GeneID)) (species (field Species Name))) (if (and (not (string-blank? symbol)) (not (string-blank? species)) (or (string=? species "human") (string=? species "mouse"))) (string->symbol (format #f "<~0@*~a> .~%<~0@*~a> ~1@*~a" "http://mouse.brain-map.org/search/show?search_type=gene&search_term=" "a gnc:abaLink" (if (string=? species "mouse") (uri-encode (string-trim-both symbol)) geneId))) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol))) (species (field Species Name))) (if (and (not (string-blank? symbol)) (not (string-blank? species)) (or (string=? species "mouse") (string=? species "human"))) (string->symbol (format #f "<~0@*~a~1@*~a~2@*~a~3@*~a> .~%<~0@*~a~1@*~a~2@*~a~3@*~a> ~4@*~a" "https://rgd.mcw.edu/rgdweb/elasticResults.html?term=" (uri-encode (string-trim-both symbol)) "&category=Gene&species=" (string-capitalize species) "a gnc:rgdLink")) ""))) (set dct:references (let ((geneId (field GeneList GeneID)) (species (field Species Name))) (if (and (not (string-blank? geneId)) (not (string-blank? species)) (or (string=? species "mouse") (string=? species "rat") (string=? species "human"))) (string->symbol (format #f "<~0@*~a~1@*~a~2@*~a~3@*~a> .~%<~0@*~a~1@*~a~2@*~a~3@*~a> ~4@*~a" "http://biogps.org/?org=" species "#goto=genereport&id=" geneId "a gnc:biogpsLink")) ""))) (set dct:references (let ((geneId (field GeneList GeneID))) (if (not (string-blank? geneId)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://www.chibi.ubc.ca/Gemma/gene/showGene.html?ncbiid=" geneId "a gnc:gemmaLink")) ""))) (set dct:references (let ((symbol (field GeneList GeneID)) (species (lower-case-and-replace-spaces (field Species FullName)))) (if (and (not (string-blank? symbol)) (not (string-blank? species)) (or (string=? species "mus-musculus") (string=? species "rattus-norvegicus") (string=? species "homo-sapiens"))) (string->symbol (format #f "<~0@*~a/~1@*~a/~2@*~a> .~%<~0@*~a/~1@*~a/~2@*~a> ~3@*~a" "https://genemania.org/search" species (uri-encode (string-trim-both symbol)) "a gnc:genemaniaLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=" (uri-encode (string-trim-both symbol)) "a gnc:PantherLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://string-db.org/newstring_cgi/show_network_section.pl?identifier=" (uri-encode (string-trim-both symbol)) "a gnc:stringLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "https://www.gtexportal.org/home/gene/" (uri-encode (string-trim-both symbol)) "a gnc:gtexLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList GeneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://www.proteinatlas.org/search/" (uri-encode (string-trim-both symbol)) "a gnc:proteinAtlasLink")) ""))) (set gnt:chromosome (field GeneList Chromosome)) (set gnt:TxStart (annotate-field (field GeneList TxStart) '^^xsd:double)) (set gnt:TxEnd (annotate-field (field GeneList TxEnd) '^^xsd:double)) (set gnt:Strand (string-trim-both (field GeneList Strand))) (multiset gnt:belongsToSpecies (map (lambda (species) (string->identifier "" (remap-species-identifiers (string-trim-both species)) #:separator "" #:proc string-capitalize-first)) (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT Species.Name )" SpeciesName))) #\,))) (multiset gnt:transcript (map (lambda (transcript) (ontology 'transcript: (string-trim-both transcript))) (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT NM_ID )" NMID))) #\,))) (multiset gnt:hasKgID (map string-trim-both (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT kgID )" kgID))) #\,))) (multiset gnt:hasUnigenID (map string-trim-both (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT UnigenID )" UnigenID))) #\,))) (multiset gnt:hasProteinID (map string-trim-both (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT ProteinID )" ProteinID))) #\,))) (multiset gnt:hasAlignID (map string-trim-both (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT AlignID )" AlignID))) #\,))) (multiset gnt:hasRgdID (map string-trim-both (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT RGD_ID )" RgdID))) #\,))))) (define-transformer genelist-rn33 (tables (GeneList_rn33) "GROUP BY BINARY GeneSymbol, chromosome, txStart, txEnd") (triples (string->identifier "gene" (regexp-substitute/global #f "[^A-Za-z0-9:]" (string-trim-both (field GeneList_rn33 geneSymbol)) 'pre "_" 'post)) (set dct:references (let ((symbol (field GeneList_rn33 geneSymbol))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://www.pantherdb.org/genes/geneList.do?searchType=basic&fieldName=all&organism=all&listType=1&fieldValue=" (string-trim-both symbol) "a gnc:PantherLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList_rn33 geneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "https://www.ebi.ac.uk/gwas/search?query=" (string-trim-both symbol) "a gnc:ebiGwasLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList_rn33 geneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://string-db.org/newstring_cgi/show_network_section.pl?identifier=" (uri-encode (string-trim-both symbol)) "a gnc:stringLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList_rn33 geneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "https://www.gtexportal.org/home/gene/" (uri-encode (string-trim-both symbol)) "a gnc:gtexLink")) ""))) (set dct:references (let ((symbol (string-trim-both (field GeneList_rn33 geneSymbol)))) (if (not (string-blank? symbol)) (string->symbol (format #f "<~0@*~a~1@*~a> .~%<~0@*~a~1@*~a> ~2@*~a" "http://www.proteinatlas.org/search/" (uri-encode (string-trim-both symbol)) "a gnc:proteinAtlasLink")) ""))) (set rdf:type 'gnc:GeneSymbol) (set rdfs:label (string-trim-both (field GeneList_rn33 geneSymbol))) (set gnt:chromosome (field GeneList_rn33 chromosome)) (set gnt:TxStart (annotate-field (field GeneList_rn33 txStart) '^^xsd:double)) (set gnt:TxEnd (annotate-field (field GeneList_rn33 txEnd) '^^xsd:double)) (set gnt:Strand (string-trim-both (field GeneList_rn33 strand))) (set gnt:belongsToSpecies 'gn:Rattus_norvegicus) (multiset gnt:transcript (map (lambda (transcript) (ontology 'transcript: (string-trim-both transcript))) (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT NM_ID )" NMID))) #\,))) (multiset gnt:hasKgID (map string-trim-both (string-split (sanitize-rdf-string (field ("GROUP_CONCAT( DISTINCT kgID )" kgID))) #\,))))) (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 "Gene Metadata") (connection %connection-settings) (table-metadata? #f) (prefixes '(("gn:" "") ("probeset:" "") ("gnc:" "") ("gnt:" "") ("rdf:" "") ("rdfs:" "") ("dct:" "") ("owl:" "") ("xsd:" "") ("qb:" "") ("gene:" "") ("sdmx-measure:" "") ("transcript:" "") ("skos:" ""))) (inputs (list genelist-rn33 genelist)) (outputs `(#:documentation ,documentation #:rdf ,output))))