Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

Mitchell R. Vollger, Jonas Korlach, Kiara C. Eldred, Elliott Swanson, Jason G. Underwood, Stephanie C. Bohaczuk, Yizi Mao, Yong-Han Hank Cheng, Jane Ranchalis, Elizabeth Blue, Ulrike Schwarze, Katherine M. Munson, Christopher T. Saunders, Aaron M. Wenger, Aimee Allworth, Sirisak Chanprasert, Brittney L. Duerden, Ian A. Glass, Martha Horike‐Pyne, Michelle Kim, Kathleen A. Leppig, Ian McLaughlin, Jessica Ogawa, Elisabeth A. Rosenthal, Sam Sheppeard, Stephanie M. Sherman, Samuel Strohbehn, Amy Lawson‐Yuen, Andrew W. Stacey, Undiagnosed Diseases Network, Thomas A. Reh, Peter H. Byers, Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Yasemin Sancak, Katrina M. Dipple, Andrew B. Stergachis