Genetics Portal v5.0 now live!

News and Announcements Releases
1

In tandem with the latest release of the Open Targets Platform, we have released a new version of the Open Targets Genetics Portal — version 5!

Key highlights for this release include:

  • Integration of 2,781 endpoints from FinnGen’s Data Freeze 5;
  • Of these, integration of credible sets for 1,267 endpoints;
  • Updated PheWAS plot to allow selection of FinnGen, UK Biobank, GWAS catalog;
  • Updated GWAS Catalog studies:
    • 220 new studies with full summary statistics,
    • 11,669 new curated studies.

For more details, see the release blog post and the change log page.

2

We can also report on some additional key numbers for version 5 of the Genetics portal:

  • Number of variants: 72 909 456

  • Number of genes: 34 659

  • Number of diseases/phenotypes: 4 835 diff EFO IDs distributed across 25 therapeutic areas

  • Number of studies: 33 781

    • FinnGen: 2 925
    • GWAS Catalog: 27 434
    • UKBB: 3 422 from the UKBB

  • Number of independent disease/trait-associated loci from the different biobanks and studies: 117 716 loci

    • UK Biobank: 30 757
    • FinnGen: 2 875
    • GWAS Catalog: 94 869

  • Number of causal gene assignments

    • Unique genes with an L2G score > 0.8: 4,900

  • Number of studies that have fine mapping: 3 387

    • FinnGen: 1 267 Finngen,
    • GWAS Catalog: 320
    • UKBB: 1 800

  • Number of trait-trait colocalisation tests: 1 410 101