Article
Specificity, length and luck drive gene rankings in association studies.
Nature - 1 Jan 2026
Spence Jeffrey P, Mostafavi Hakhamanesh, Ota Mineto, Milind Nikhil, Gjorgjieva Tamara, Smith Courtney J, Simons Yuval B, Sella Guy, Pritchard Jonathan K
Abstract excerpt
Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes1. Although these methods are conceptually similar, by analysing association studies of 209 quantitative traits in the UK Biobank2-4, we show that they systematically prioritize different genes. This raises the question of how genes should ideally be prioritized. We propose two...
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