Article

Integration of rare large-effect expression variants improves polygenic risk prediction

2020-12-11

Abstract excerpt

<h4>Summary</h4> Polygenic risk scores (PRS) aim to quantify the contribution of multiple genetic loci to an individual’s likelihood of a complex trait or disease. However, existing PRS estimate genetic liability using common genetic variants, excluding the impact of rare variants. We identified rare, large-effect variants in individuals with outlier gene expression from the GTEx project and then assessed their im...

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Literature Corpus work: 55da51d9-cbee-5c59-b49a-b68bde7fa15d
DOI: 10.1101/2020.12.02.20242990

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