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
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
Fix compute score for distance (canonical tss) dataset where distance was
Compute a quantile score based on the rank of each variant 2 gene evidence in a (
feature) window over the raw
For more details, check the change log page.
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
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
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.