Cell-type aware transcriptome-wide association study of mammographic density phenotypes
Adriana Sistig, Joseph H. Rothstein, Sinan Zhu, S. Taylor Head, Yung-Han Chang, Ninah S. Achacoso, Stacey Alexeeff, Vignesh A. Arasu, Tejomay Gadgil, Lawrence David Gerstley, Laurie R. Margolies, Lori C. Sakoda, Li Shen, Cara L. Smith Gueye, Marvella Villaseñor, , Weiva Sieh
This study performs a cell-type-aware transcriptome-wide association study (TWAS) of mammographic density phenotypes, identifying novel genes and prioritizing known GWAS loci through cell-type-specific gene expression analysis.
medRxiv · Nov 25, 2025 · PreprintGenetic & Genomic Medicine