Functional characterization of thousands of type 2 diabetes-associated and chromatin-modulating variants under steady state and endoplasmic reticulum stress
Shubham Khetan, Susan Kales, Romy Kursawe, Alexandria Jillette, Steven K. Reilly, Duygu Ucar, Ryan Tewhey, Michael L. Stitzel
The paper identifies functional β cell transcriptional variants from T2D GWAS SNPs using MPRA, showing strong correlation with chromatin accessibility and revealing regulatory features under stress conditions.
bioRxiv · Feb 12, 2020 · PreprintGenomics