Data Sources

This section contains information about the data source harmonisation tools available in Open Targets Gentropy.

GWAS study sources

1. GWAS Catalog (with or without full summary statistics)
2. FinnGen
3. UKB PPP (EUR)

Molecular QTLs

1. GTEx (eQTL catalogue)

Interaction / Interval-based Experiments

1. Intervals-based datasets, informing about the relationships between genetic elements and their functional implications.

Variant annotation/validation

1. GnomAD v4.0
2. GWAS catalog's harmonisation pipeline
3. Ensembl's Variant Effect Predictor

Linkage desiquilibrium

1. GnomAD v2.1.1 LD matrixes (7 ancestries)

Locus-to-gene gold standard

1. Open Targets training set

Gene annotation

1. Open Targets Platform Target Dataset (derived from Ensembl)

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• 2024-01-18
• 2024-06-30
• Contributors
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