Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Goldberg ME, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. (2025). Human de novo mutation rates from a four-generation pedigree reference. Nature Apr 23. doi: 10.1038/s41586-025-08922-2. Online ahead of print.
Blog Archives
Conservation of dichromatin organization along regional centromeres
Dubocanin D, Hartley GA, Sedeño Cortés AE, Mao Y, Hedouin S, Ranchalis J, Agarwal A, Logsdon GA, Munson KM, Real T, Mallory BJ, Eichler EE, Biggins S, O’Neill RJ, Stergachis AB. (2025). Conservation of dichromatin organization along regional centromeres. Cell Genom Apr 9;5(4):100819.
MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins
Haberman M, Kamyshinsky R, Reznik N, Yeshaya N, Khmelnitsky L, Plender EG, Eichler EE, Fass D. (2025). MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins. Proc Natl Acad Sci U S A Mar 11;122(10):e2419717122.
Integrated analysis of the complete sequence of a macaque genome
Zhang S, Xu N, Fu L, Yang X, Ma K, Li Y, Yang Z, Li Z, Feng Y, Jiang X, Han J, Hu R, Zhang L, Lian D, de Gennaro L, Paparella A, Ryabov F, Meng D, He Y, Wu D, Yang C, Mao Y, Bian X, Lu Y, Antonacci F, Ventura M, Shepelev VA, Miga KH, Alexandrov IA, Logsdon GA, Phillippy AM, Su B, Zhang G, Eichler EE, Lu Q, Shi Y, Sun Q, Mao Y. (2025). Integrated analysis of the complete sequence of a macaque genome. Nature Apr;640(8059):714-721.
Structural polymorphism and diversity of human segmental duplications
Jeong H, Dishuck PC, Yoo D, Harvey WT, Munson KM, Lewis AP, Kordosky J, Garcia GH; Human Genome Structural Variation Consortium (HGSVC); Yilmaz F, Hallast P, Lee C, Pastinen T, Eichler EE. (2025). Structural polymorphism and diversity of human segmental duplications. Nat Genet Feb;57(2):390–401.
Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome
Rea HM, Webb SJ, Kurtz-Nelson EC, Hudac CM, Bernier RA, Miles C, Earl R, Whiting A, Eayrs C, Johansson M, Wang T, Eichler EE, Neuhaus E. (2025). Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome. Front Neurosci Jan 7;18:1485499.