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

作者：Mitchell R. 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, Sirisak Chanprasert, Brittney L. Duerden, Ian A. Glass, Martha J. Horike-Pyne, Michelle J. Kim, Kathleen A. Leppig, Ian J. 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 Marie Hisama, Gail Pairitz 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：40 · 研究领域：Genomics and Chromatin Dynamics、RNA modifications and cancer、Cancer Genomics and Diagnostics