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

作者：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 · 发表于：Nature Genetics · 年份：2025 · DOI：10.1038/s41588-024-02067-0 · 被引用次数：35 · 研究领域：Genomics and Chromatin Dynamics、RNA modifications and cancer、Cancer Genomics and Diagnostics