Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Bohaczuk SC, Mao Y, Cheng YH, Ranchalis J, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, Stacey AW; University of Washington Center for Rare Disease Research; Undiagnosed Diseases Network; Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB.
Vollger MR, et al.
Nat Genet. 2025 Feb;57(2):469-479. doi: 10.1038/s41588-024-02067-0. Epub 2025 Jan 29.
Nat Genet. 2025.
PMID: 39880924
Free PMC article.