Article
Decoding common and rare noncoding variant effects across cellular and developmental contexts.
Nature genetics - 1 Jul 2026
Marderstein Andrew R, Kundu Soumya, Padhi Evin M, Deshpande Salil, Wang Austin, Robb Esther, Sun Ying, Yun Chang M, Pomales-Matos Diego, Xie Yilin, Chang Serena H, Chin Iris M, Shah Aayushi J, Gardell Zachary A, Corces M Ryan, Nachun Daniel, Jessa Selin, Kundaje Anshul, Montgomery Stephen B
Abstract excerpt
Interpreting how noncoding variants act in specific cell types across human development is a major challenge. Here we generated 3 billion predictions from deep learning sequence models of chromatin accessibility across diverse fetal and adult cellular contexts. These prioritized functional variants and revealed a dichotomy: common variants are more cell-type-specific, whereas ultra-rare variants had larger and...
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