Release Notes

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

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

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

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

18 October 2018

Version 1 of Open Targets Genetics was released at the American Society of Human Genetics conference in San Diego in October 2018. Future updates to the portal will be documented here.