Genetic & Genomic MedicinemedRxivPreprint
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping
D. Liu, Carolyn Β. Mervis, Mark David Levin…·Beth A. Kozel
The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.
DOI 10.1101/2024.09.17.24313555