Toward Population-Level Brain AVM Screening: Construction and Evaluation of a Two-Step Genetic Risk Model Incorporating Rare Mendelian Variants and a Novel Polygenic Risk Score
Pious D. Patel, Sanjana R. Salwi, Penn Medicine Biobank, Michael Reid Gooch, Adam J. Kundishora, Scott M. Damrauer, Stavropoula I. Tjoumakaris, Jan-Karl Burkhardt, Pascal Jabbour, Theodore G. Drivas
This paper develops a two-step genetic risk model for brain arteriovenous malformations (bAVM) using rare Mendelian variants and a polygenic risk score, identifying high-risk individuals with improved screening efficiency.
medRxiv · Sep 14, 2026 · PreprintGenetic & Genomic Medicine