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 H. Cheng,Jane Ranchalis,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,Andrew W. Stacey,Thomas A. Reh,Peter H. Byers,Michael J. Bamshad,Fuki M. Hisama,Gail P. Jarvik,Yasemin Sancak,Katrina M. Dipple,Andrew B. Stergachis Nature Genetics（2025）
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Multiplex Genome Editing,DNA Methylation,Exome Sequencing
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