NPEPPS segmental duplication drives position effect expression of TBC1D3 in the human brain
Xavi Guitart, Jessie Brunner, Luyao Ren, Hyeonsoo Jeong, DongAhn Yoo, David Porubskỳ, Kendra Hoekzema, Katherine M. Munson, Kaitlyn A. Sun, Marcelo Ayllon, Kaylynn Hoglin, Reed McMullen, Bryan J. Pavlovic, Mitchell Robert Vollger, Alex A. Pollen, Evan E. Eichler
The paper identifies a segmental duplication that drives position effect expression of TBC1D3 in the human brain, explaining its high structural heterozygosity.
bioRxiv · Jan 15, 2026 · PreprintGenomics