Data Sources
We have designed Open Targets Genetics to be scalable and readily extensible. New data sources will continually be curated, reviewed, incorporated, and documented here and in the release notes. Please get in touch with any suggestions.

Variant index

Disease-associated loci sources (V2D)

Haplotype reference samples

Variant-to-Gene (V2G) annotation sources

  • In silico functional prediction
  • Molecular quantitative trait locus (QTL) experiments
    • pQTL (Sun et al., 2018): Evidence linking genetic variation to protein abundance in Sun et al. (2018) pQTL data
    • eQTL: Evidence linking genetic variation to gene expression. See table below:
Consortium
Tissues/cell types
GTEX v7
44 tissues
ALASOO
Macrophage naive/IFNG/IFNG Salmonella
BLUEPRINT
Monocyte, neutrophil, T cells
CEDAR
B cells, Ileum, monocyte, neutrophil, platelet, rectrum, traverse colon, T cell CD4/CD8
FAIRFAX
Monocyte naive/IFN24/LPS2/LPS24, neutrophil, T cells, B cells
GENCORD
Fibroblast, LCL, T cells
GEUVADIS
LCL
HIPSCI
iPSC
NARANBHAI
Neutrophil CD16
NEDELEC
Macrophage naive/Listeria/Salmonella
QUACH
Monocyte IAV/LPS/naive/PAM3CSK4/R848
SCHWAYZENTRUBER_2018
Sensory neuron
TWINSUK
Skin, fat, LCL
VAN_DE_BUNT_2015
Pancreatic islet
eQTLGen
Blood
Further details on each V2G dataset, including workflows to reproduce them, are located here.
Last modified 5mo ago
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