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

Title:	Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Authors:	Vollger, Mitchell R.^{Aff1, Aff2}; Korlach, Jonas^Aff3; Eldred, Kiara C.^Aff4; Swanson, Elliott^Aff1; Underwood, Jason G.^Aff3; Bohaczuk, Stephanie C.^Aff1; Mao, Yizi^Aff2; Cheng, Yong-Han H.^Aff1; Ranchalis, Jane^Aff2; Blue, Elizabeth E.^{Aff2, Aff5, Aff6}; Schwarze, Ulrike^Aff7; Munson, Katherine M.^Aff1; Saunders, Christopher T.^Aff3; Wenger, Aaron M.^Aff3; Allworth, Aimee^Aff2; Chanprasert, Sirisak^Aff2; Duerden, Brittney L.^Aff8; Glass, Ian^{Aff6, Aff9}; Horike-Pyne, Martha^Aff2; Kim, Michelle^Aff3; Leppig, Kathleen A.^Aff10; McLaughlin, Ian J.^Aff3; Ogawa, Jessica^Aff11; Rosenthal, Elisabeth A.^Aff2; Sheppeard, Sam^Aff2; Sherman, Stephanie M.^Aff2; Strohbehn, Samuel^Aff2; Yuen, Amy L.^Aff10; Stacey, Andrew W.^Aff12; Reh, Thomas A.^Aff4; Byers, Peter H.^{Aff2, Aff7}; Bamshad, Michael J.^{Aff6, Aff9}; Hisama, Fuki M.^{Aff2, Aff6}; Jarvik, Gail P.^{Aff1, Aff2, Aff6}; Sancak, Yasemin^Aff13; Dipple, Katrina M.^{Aff6, Aff9}; Stergachis, Andrew B.^{Aff1, Aff2, Aff6, IDs41588024020670_cor1}
Source:	Nature Genetics. 57(2):469-479
Database:	Springer Nature Journals