#! /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 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)
;; 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 (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 AND PublishFreeze.public > 0 AND PublishFreeze.confidentiality < 1")
(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))
(set gnt:additive
(annotate-field (field ("IFNULL(PublishXRef.additive, '')" additive))
'^^xsd:double))
(set gnt:sequence (annotate-field (field PublishXRef Sequence) '^^xsd:integer))
(set rdfs:comment (sanitize-rdf-string (field PublishXRef 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/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#>")
("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 gnc:phenotype->gn:phenotype
gn:phenotype->metadata
gn:trait->gn:phenotype))
(outputs
`(#:documentation ,documentation
#:rdf ,output))))