Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts
Shawn Fayer, Riddhiman K. Garge, Melissa Hopkins, Clayton E. Friedman, Abby V. McGee, Joshua Rico, Rachel L. Powell, Evan McDermot, Nahum T. Smith, Sriram Pendyala, Marcy E. Richardson, Erica D. Smith, B. Monica Bowen, Rebecca Resnick, Pankhuri Gupta, , Lea M. Starita
The paper develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.
medRxiv · Nov 12, 2025 · PreprintGenetic & Genomic Medicine