| Title: | ExPheWas: a platform for cis-Mendelian randomization and gene-based association scans |
| Journal: | Nucleic Acids Research |
| Published: | 26 Apr 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/35474380/ |
| DOI: | https://doi.org/10.1093/nar/gkac289 |
| URL: | https://academic.oup.com/nar/article-pdf/50/W1/W305/44379292/gkac289.pdf |
| Citations: | 3 (3 in last 2 years) as of 8 Aug 2024 |
Publication 12397
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Abstract
Establishing the relationship between protein-coding genes and phenotypes has the potential to inform on the molecular etiology of diseases. Here, we describe ExPheWas (exphewas.ca), a gene-based phenome-wide association study browser and platform that enables the conduct of gene-based Mendelian randomization. The ExPheWas data repository includes sex-stratified and sex-combined gene-based association results from 26 616 genes with 1746 phenotypes measured in up to 413 133 individuals from the UK Biobank. Interactive visualizations are provided through a browser to facilitate data exploration supported by false discovery rate control, and it includes tools for enrichment analysis. The interactive Mendelian randomization module in ExPheWas allows the estimation of causal effects of a genetically predicted exposure on an outcome by using genetic variation in a single gene as the instrumental variable.</p>
7 Keywords
- Causality
- Genetic Association Studies
- Genome-Wide Association Study
- Mendelian Randomization Analysis
- Phenomics
- Phenotype
- Polymorphism, Single Nucleotide
4 Authors
- Marc-André Legault
- Louis-Philippe Lemieux Perreault
- Jean-Claude Tardif
- Marie-Pierre Dubé
1 Application
| Application ID | Title |
|---|---|
| 20168 | Pharmacogenomic study using the UK Biobank data |
Enabling scientific discoveries that improve human health