Tool: Open Targets Genetics: variant-centric resource for drug target identification and prioritisation
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gravatar for Denise - Open Targets
12 weeks ago by
UK, Hinxton, EMBL-EBI
Denise - Open Targets4.7k wrote:

Looking for a resource to help you identify causal associations between genetic variants, genes, and diseases in humans? Would you like this information to be open source, open access, and available in an easy-to-use web interface?

Open Targets has launched Open Targets Genetics, a variant-centric portal that allows you to:

  • Prioritise genes using an integrated functional score
  • Generate a list of genes for which a variant is functionally implicated
  • Identify variants tagging a trait-associated lead variant through fine mapping or LD
  • Identify traits associated with a gene or variant
  • Find shared susceptibility loci
  • Visualise associations between traits, variants, and genes
  • Connect genes with known drugs in the Open Targets Platform

This new resource will complement the Open Targets Platform and assist with the identification and prioritisation of potential new drug targets by highlighting candidate causal variants and their implicated genes.

Check our short animation to whiz through UK Biobank data, GWAS, GTEx, FANTOM5, PCHi-C data and plenty more.

What are the entry points into Open Targets Genetics?

  • Variant (either as a rsID or GRCh37 genomic coordinates e.g. 1_154426264_C_T)
  • Gene (HGNC official symbol or Ensembl gene ID)
  • Trait or study, including GWAS Catalog and UK Biobank phenotypes

Where does the data come from?

We integrate publicly available functional genomics datasets including eQTL, pQTL, enhancer-TSS, DHS-promoter, and promoter capture Hi-C data, as well as functional consequences predicted by Ensembl VEP. More details can be found on our data sources documentation. The variant-phenotype associations are derived from UK Biobank disease-trait summary statistics and GWAS curated studies. We use the GWAS (lead) disease-associated variants and expand this set into causal tag variants through linkage disequilibrium (LD) expansion or fine-mapping.

Want to know more?

Head to our docs to get an overview of our approach, the technologies we use, our FAQs, and plenty more.

Have a question or want to make a comment?

Email us and we will get back as soon as we can. Sign up to our newsletter if you want to keep up-to-date with the developments and news on Open Targets Genetics.

drug gene phenotype snp tool gwas • 181 views
ADD COMMENTlink modified 11 weeks ago • written 12 weeks ago by Denise - Open Targets4.7k
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