Article

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

2024-09-18

Abstract excerpt

In a previous pathway-based, extreme phenotype study, we identified 1064 variants associated with supravalvar aortic stenosis (SVAS) severity in people with Williams syndrome (WS) and either no SVAS or surgical SVAS. Here, we use those variants to develop and test polygenic risk scores (PRS). We used the clumping and thresholding (CT) approach on the full 1064 variants and a 427-variant subset that was part of 13...

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Literature Corpus work: 73b9ff0a-49ec-5fe3-a536-2d6f1f31dff9
DOI: 10.1101/2024.09.17.24313555

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