The highlights in this new release are:
- GWAS Catalog curated data now updated to 2019-03-01
- Effect sizes for curated variant-disease associations now harmonised
Improved V2G pipeline
We assign variants to genes using the variant-to-gene (V2G) pipeline, which now includes:
- Distance between variants and canonical TSS within a 500Kb region
- Intronic, UTR variants and NMD variants scored as 0.1 in the V2G assignment
New summary views and tables
In the page for any given genetic variant, e.g. rs4129267 (1_154426264_C_T in GRCh37 coordinates), we have a new summary view, which displays:
- Most severe consequence from the Ensembl Variant Effect Predictor
- Population allele frequencies from gnomAD
- CADD scores, both raw and scaled
The tables throughout the user interface, e.g. table in the Crohn's disease [EA] study page, have now additional columns to include effect size metrics:
- Odds Ratio
- Beta (coefficient)
- 95% Confidence Interval
Effect size metrics are extracted by GWAS Catalog for each defined SNP in the original curated paper and associated with the strongest SNP risk allele
New bulk download options
In addition to an easy-to-use and interactive user interface, you can get all data from Open Targets Genetics data via:
- Google BigQuery, project data set
- Google Cloud Storage (GCS) paywalled public bucket
Note: Although Open Targets makes this data publicly available, any queries a requester may make to the bucket
open-targets-genetics-releaseswill be billed to the requester.
More details are available in the Requester Pays feature for Cloud Storage.
We are currently copying this data to the EMBL-EBI public FTP | databases | Open Targets site as well; the final URL will be added to this post shortly.
Questions or comments?
Open Targets Genetics is only six-months old and we have exciting future plans lined up for our upcoming releases.
In the meantime, feel free to dive into our documentation to find more about:
- Technologies we use, e.g. Spark and Scala
- GitHub repositories
- ASHG2018 workshop materials
- Release notes
Save the date
The next release of Open Targets Genetics will be just in time for our workshop at ESHG in Gothenburg, Sweden.
Attending ESHG? Make sure to book your space in the From genetics to new medicines: The Open Targets Genetics Portal workshop on June 15th.
Hope to see you there.
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