Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition
Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Yong-Han H. Cheng, Jane Ranchalis, Yizi Mao, Elizabeth E. Blue, Ulrike Schwarze, Katherine M. Munson, Christopher T. Saunders, Aaron M. Wenger, Aimee Allworth, Sirisak Chanprasert, Brittney L. Duerden, Ian Glass, Martha Horike-Pyne, Michelle Kim, Kathleen A. Leppig, Ian J. McLaughlin, Jessica Ogawa, Elisabeth A. Rosenthal, Sam Sheppeard, Stephanie M. Sherman, Samuel Strohbehn, Amy L. Yuen, University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Thomas A. Reh, Peter H. Byers, Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Yasemin Sancak, Katrina M. Dipple, Andrew B. Stergachis
bioRxiv 2023.09.26.559521; doi: https://doi.org/10.1101/2023.09.26.559521