Open Targets Platform 22.06 has been released!

Open Targets Platform Jun 24, 2022

The latest release of the Platform — 22.06 — is now available at platform.opentargets.org.


Key points


Key stats

Metric Count
Targets 61,524
Diseases 23,074
Drugs 12,854
Evidence strings 14,455,104
Associations 7,247,865

Take a look at the Open Targets Community for more detailed stats.


Additional gene burden evidence

Our previous release (22.04) featured the addition of a new evidence source for gene burden, incorporating the results from the aggregation of rare and ultra-rare variants at the gene-level available in AstraZeneca’s PheWAS portal and Backman et al..

To this, we have now added results from five additional studies, notably Genebass.

These bring in 1,465 new target-disease associations.

Genebass

Gene-based Association Summary Statistics (Genebass) is a resource of exome-based association statistics based on data available in the UK Biobank.

We have incorporated the results from their latest release, bringing in evidence supporting 7,238 associations, from 8,808 evidence strings, for 715 traits and 2,645 targets.

The evidence integrated from Genebass recapitulates known associations such as the link between PCSK9 and hypercholesterolemia, or LRP5 and osteoporosis.


Gene burden evidence for the association of LRP5 and osteoporosis in the Open Targets Platform.

It also includes novel associations, such as SCRIB and white matter microstructure measurement, highlighted by the authors in their recent manuscript (Karczewski, et al., 2022).


Gene burden evidence for the association of SCRIB and white matter microstructure measurement in the Open Targets Platform.

The additional studies we have integrated are:

  • Bomba et al. (2022), the results of an Open Targets project which found associations between rare coding variants and blood metabolites
How Lorenzo Bomba is using rare genetic variants to understand blood metabolites
In one of the largest sequencing metabolomics studies to date, Lorenzo Bomba found new associations between genes and blood metabolites, using rare genetic variants from the INTERVAL study.

Find out more about how we integrated these studies in the Platform documentation.


Medical procedures added in the ontology

We have added evidence associating genes with medical procedures. This allows us to associate targets with such terms, mainly based on GWAS through the Open Targets Genetics portal, UK Biobank burden tests, and literature mining evidence.

In this way, Platform users can leverage genetic signals associated with a medical procedure to prioritise targets for a primary disease.

For example, the Platform now includes an association between renal dialysis and PKD1, a target strongly linked to kidney disease.


Targets associated with renal dialysis, a new phenotype in the Open Targets Platform. PKD1 is the most strongly associated target, based on genetic association evidence.


Subcellular locations visualisation

Users can now visualise the subcellular location of targets in the Platform using SwissBioPics visualisations.

Subcellular location widget for BRAF in the Open Targets Platform.

Questions, thoughts, or comments? Let us know on the Open Targets Community!

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