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The open targets post-GWAS analysis pipeline.
Peat, Gareth; Jones, William; Nuhn, Michael; Marugán, José Carlos; Newell, William; Dunham, Ian; Zerbino, Daniel.
Afiliação
  • Peat G; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Jones W; Open Targets, EBI South Building, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Nuhn M; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Marugán JC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Newell W; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Dunham I; Open Targets, EBI South Building, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
  • Zerbino D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Bioinformatics ; 36(9): 2936-2937, 2020 05 01.
Article em En | MEDLINE | ID: mdl-31930349
MOTIVATION: Genome-wide association studies (GWAS) are a powerful method to detect even weak associations between variants and phenotypes; however, many of the identified associated variants are in non-coding regions, and presumably influence gene expression regulation. Identifying potential drug targets, i.e. causal protein-coding genes, therefore, requires crossing the genetics results with functional data. RESULTS: We present a novel data integration pipeline that analyses GWAS results in the light of experimental epigenetic and cis-regulatory datasets, such as ChIP-Seq, Promoter-Capture Hi-C or eQTL, and presents them in a single report, which can be used for inferring likely causal genes. This pipeline was then fed into an interactive data resource. AVAILABILITY AND IMPLEMENTATION: The analysis code is available at www.github.com/Ensembl/postgap and the interactive data browser at postgwas.opentargets.io.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Estudo de Associação Genômica Ampla Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Estudo de Associação Genômica Ampla Idioma: En Ano de publicação: 2020 Tipo de documento: Article