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