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.
INTRODUCTION: Brain arteriovenous malformation (bAVM) is present in 0.01% of the population and has devastating neurologic consequences when ruptured. This study reports and evaluates a novel two-step genetic risk stratification model for bAVM, taking into account both rare Mendelian and common genetic variants, to identify patients with high genetic risk who can then receive screening MRI. METHODS: Participants in the Penn Medicine Biobank (PMBB) with both exome sequencing and imputed (TOPMED) genotyping array data were included in this study. Participants were stratified into a "Mendelian c
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