A curated database of publicly available summary-level genome-wide association study (GWAS) results and an analytical platform that facilitates "phenome scans" – the cross-comparison of genetic variants with many phenotypes, to help aid understanding of disease pathways and biology.
The user can specify the genetic variant, single nucleotide polymorphism (SNP), gene, genomic region or trait they wish to search within the various catalogues of traits (e.g., diseases and traits, gene expression, etc.) as well as the parameters for searching (e.g., p-value threshold). Databases such as PhenoScanner and that curated by the "IEU OpenGWAS" can enable users to undertake "phenome scans" of a particular genetic variant. They can also be used as a sensitivity analyses to MR analyses with single instrumental variables (IVs) (e.g., for 'omic exposures) to investigate the phenotypes that may be associated with the IV to assess whether any causal estimate between that exposure and an outcome of interest could be driven by horizontal pleiotropy via those phenotypes.
References
Other terms in 'Supporting resources and software packages':
- AER software package
- GSMR
- ivmodel
- ivonesamplemr
- ivreg2
- ivregress
- ivtools
- LD Hub
- MendelianRandomization
- MR-Base and TwoSampleMR
- MR-TRYX
- mrrobust
- OneSampleMR
- PhenoSpD
- PHESANT
- RadialMR
- Sample size and power calculators
- Strengthening the Reporting of Observational Studies in Epidemiology using Mendelian Randomization (STROBE-MR)