Endophenotype-Informed Polygenic Risk Stratification for Primary Open-Angle Glaucoma in individuals of African Ancestry
Aude Benigne Ikuzwe Sindikubwabo, Lannawill Caruth, Yan Zhu, Yuki Bradford, Colleen Morse, Mina Halimitabrizi, Leila Ghaffari, Rebecca Salowe, Roy Lee, Anurag Verma, Marijana Vujković, Ahmara Gibbons Ross, Joan O'Brien, Shefali Setia-Verma
This paper develops endophenotype-informed polygenic risk scores for POAG in African ancestry individuals, showing improved clinical interpretability and risk stratification compared to aggregate scores.
medRxiv · Sep 29, 2025 · PreprintGenetic & Genomic Medicine