UK Biobank Mendelian trait GWAS

Publications

An effector index to predict target genes at GWAS loci.
Forgetta V, Jiang L, Vulpescu NA, et al.
Hum Genet. 2022 Feb 11. doi: 10.1007/s00439-022-02434-z.
PMID: 35147782

Dataset phenotypes

  • Calcium
  • Bilirubin
  • Random glucose
  • LDL cholesterol
  • Triglycerides

Experiment summary

This study analyzed genetic associations in UK Biobank participants. Single-gene mutations are known to affect each of the 5 phenotypes analyzed, providing a positive-control set of effector genes for that trait. These positive-control sets were used in the development of a method to identify putative effector genes for a given phenotype.

Dataset ID
GWAS_PredCausGen_eu