データセット詳細

GWAS catalog

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データセット仕様

タグ	Genome Variation
提供元	Original
登録区分	Added by RDF portal
データ提供者	European Bioinformatics Institute
作成者	European Bioinformatics Institute
公開日
ライセンス	Summary statistics are available under CC0 terms unless otherwise indicated Other GWAS Catalog data can be used under the standard Terms of Use for EBI services which can be found at http://www.ebi.ac.uk/about/terms-of-use. The code is available under the Apache version 2.0 license.
ダウンロード	https://rdfportal.org/download/gwas-catalog
SPARQLエンドポイント	https://rdfportal.org/ebi/sparql

データセット統計

Triples: 47082578

Subjects: 2419147

Properties: 55

Objects: 6144136

Classes: 11025

SPARQLクエリ例

例 1

エンドポイントで実行

# Endpoint: https://togovar.org/sparql
# Description: GWAS Catalog association and study record for dbsnp rs671 variant
# Parameter: snps: (example: rs671)

PREFIX gwas: <http://rdf.ebi.ac.uk/terms/gwas/>
PREFIX terms: <http://med2rdf.org/gwascatalog/terms/>
PREFIX dct: <http://purl.org/dc/terms/>

SELECT ?strongest_snp_risk_allele ?p_value ?beta ?beta_unit ?ci_text ?mapped_trait_text ?mapped_trait_uri ?refpubmed ?study ?study_description ?initial_sample_size ?replication_sample_size ?snps
WHERE {
    VALUES ?snps { "rs671" }
    ?GWASAssociation a gwas:Association ;
        terms:strongest_snp_risk_allele ?strongest_snp_risk_allele ;
        terms:p_value ?p_value ;
        terms:beta ?beta ;
        terms:beta_unit ?beta_unit ;
        terms:ci_text ?ci_text ;
        terms:mapped_trait ?mapped_trait_text ;
        terms:mapped_trait_uri ?mapped_trait_uri ;
        dct:references ?refpubmed ;
        terms:study ?study ;
        terms:snps ?snps .
    ?study a gwas:Study ;
        dct:description ?study_description ;
        terms:initial_sample_size ?initial_sample_size ;
        terms:replication_sample_size ?replication_sample_size .
}
LIMIT 100

スキーマ図