Open Targets Genetics Documentation
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Introduction
Release notes
Change log
FAQs
Future Plans
Licence
Citation
Terms of Use
Our Approach
Overview
Assigning Variants to Disease (V2D)
Assigning Variants to Genes (V2G)
Prioritising causal genes at GWAS loci (L2G)
Colocalisation analysis
Data Sources
Genetic Variation
FinnGen
Molecular Traits
Others
How To Use Open Targets Genetics starting with
A Gene
A Study (Trait)
Multiple Studies
A Variant
Introducing the Locus Plot
Technical Pipeline
What Technologies Do We Use?
GitHub Repositories
Pipeline schematic overview
Meetings
ESHG Workshop 2019
ASHG Workshop 2018
Data access
Data Download
GraphQL API
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Genetic Variation

Variant index

  • ​GnomAD v2.1​

Disease-associated loci sources (V2D)

  • ​GWAS Catalog curated studies​
  • ​GWAS Catalog summary statistics​
  • ​Neale lab UK Biobank summary statistics​
  • ​SAIGE UK Biobank summary statistics​
  • ​FinnGen summary statistics​

Haplotype reference samples

  • ​1000 Genomes Phase 3 - used for LD expansion
  • ​UK Biobank genotypes - used for conditional analysis in top-loci detection, fine-mapping and colocalisation analyses (approved application).

Variant functional predictions

  • In silico functional prediction
    • ​Variant-Effect Predictor (VEP): Most severe transcript consequence(s)
Our Approach - Previous
Data Sources
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FinnGen
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