Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
Mitchell Robert Vollger, Jonas Korlach, Kiara C. Eldred, Elliott G. Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, Yizi Mao, Yong-Han Hank Cheng, Jane E. Ranchalis, Elizabeth Blue, Ulrike Schwarze, Katherine M. Munson, Christopher T. Saunders, Aaron M. Wenger, Aimee Allworth, , Andrew B. Stergachis
Pooling Fiber-seq gDNA with concatenated MAS-Seq cDNA in one PacBio run gives phased genome, methylome, chromatin, and transcriptome, exposing four gene disruptions from one X;13 translocation.
Nature Genetics · Jan 29, 2025Peer-reviewedGenetics✦ In-depth digest