Resolving the chromatin impact of mosaic variants with targeted Fiber-seq
Stephanie C. Bohaczuk, Zachary J. Amador, Chang Long Li, Benjamin J. Mallory, Elliott G. Swanson, Jane Ranchalis, Mitchell Robert Vollger, Katherine M. Munson, Tom Walsh, Morgan O. Hamm, Yizi Mao, André Lieber, Andrew B. Stergachis
This study uses targeted Fiber-seq to analyze the chromatin impact of mosaic variants, showing that pathogenic DMPK CTG expansions disrupt regulatory elements and that base editing can alter chromatin accessibility.
bioRxiv · Jul 9, 2024 · PreprintGenomics