Functional dissection of complex and molecular trait variants at single nucleotide resolution
Layla Siraj, Rodrigo I. Castro, Hannah B. Dewey, Susan Kales, John C. Butts, Thanh Thanh L. Nguyen, Masahiro Kanai, Daniel Berenzy, Kousuke Mouri, Qingbo S. Wang, Petko P. Fiziev, Kristin Tsuo, Zachary Ryan McCaw, Sager J. Gosai, François Aguet, , Ryan Tewhey
This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.
Nature · Feb 25, 2026Peer-reviewedGenetics