Article

Novel joint enrichment test demonstrates high performance in simulations and identifies cell-types with enriched expression of inflammatory bowel disease risk loci

2023-06-13

Abstract excerpt

A number of methods have been developed to assess the enrichment of polygenic risk variants – from summary statistics of genome-wide association studies (GWAS) – within specific gene-sets, pathways, or cell-type signatures. The assumptions made by these methods vary, which leads to differences in results and performance across different genetic trait architectures and sample sizes. We devise a novel statistical te...

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Literature Corpus work: 6b332ab3-e842-5f84-919c-466c678ebc29
DOI: 10.1101/2023.06.13.544716

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