Release Notes

Head to Open Targets blog for all Genetics-releases posts.

02 March 2020

  • New locus-to-gene pipeline

  • New repository of gold-standard GWAS loci

  • Additional 637 GWAS studies from the GWAS Catalog

  • New Promoter Capture Hi-C data

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

13 June 2019

  • Disease-molecular trait co-localisation analysis

  • Integration of new molecular QTL datasets, including the upcoming Open Targets-European Bioinformatics Institute eQTL database

  • Integration of GWAS Catalog summary statistic database, meaning more fine-mapping, colocalisation and PheWAS

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

11 April 2019

  • Fix compute score for distance (canonical tss) dataset where distance was 0

  • Compute a quantile score based on the rank of each variant 2 gene evidence in a (source_id, feature) window over the raw *_score

For more details, check the change log page.

1 April 2019

  • New release of GWAS Catalog curated data (r2019-03-01)

  • Harmonised effect sizes for curated variant-disease associations

  • GWAS Catalog sub-phenotypes ("p-value text" field) automatically split into separate study IDs

  • Subset of GWAS Catalog studies undergo additional distance-based clustering (±500kb) to remove redundant top loci

  • Distance between variants and each canonical transcript start site (TSS) within 500kb has been added to the variant-to-gene data

  • VEP consequences intron_variant, 5_prime_UTR_variant, 3_prime_UTR_variant, NMD_transcript_variant have been given non-zero (0.1) scores in the V2G assignment

  • We now use the gnomAD (v2.1) site list as our variant index

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

18 October 2018

Open Targets Genetics was first released on 18th October 2018 at the American Society of Human Genetics conference in San Diego in October 2018.

Head to ASHG Workshop 2018 for the training materials presented at that meeting.