Porubsky D, Yoo D, Koundinya N, Souche E, Dishuck PC, Dierckxsens N, Harvey WT, Munson KM, Hoekzema K, Chan DD, Leung TY, Santos MS, Meynants S, Swillen A, Breckpot J, Tsapalou V, Hasenfeld P, Korbel JO; Human Pangenome Reference Consortium; Lansdorp PM, Vermeesch JR, Eichler EE. (2026). Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion. Nat Commun Apr 18;17(1):3701.
Blog Archives
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
Real TD, Hebbar P, Yoo D, Antonacci F, Pačar I, Dubocanin D, Diekhans M, Mikol GJ, Popoola OG, Mallory BJ, Vollger MR, Dishuck PC, Guitart X, Rozanski AN, Munson KM, Hoekzema K, Ranchalis JE, Neph SJ, Sedeño-Cortes AE, Paten B, Salama SR, Stergachis AB, Eichler EE. (2026). Genetic diversity and regulatory features of human-specific NOTCH2NL duplications. Cell Genom Mar 30:101194. doi: 10.1016/j.xgen.2026.101194. Online ahead of print.
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA
Noyes MD, Sui Y, Kwon Y, Koundinya N, Wong I, Munson KM, Hoekzema K, Kordosky J, Garcia GH, Knuth J, Lewis AP, Eichler EE. (2026). Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA. Nat Commun Mar 9;17(1):3717. doi: 10.1038/s41467-026-70342-1.
Using the linear references from the pangenome to discover missing autism variants
Sui Y, Lin J, Noyes MD, Kwon Y, Wong I, Koundinya N, Harvey WT, Wu M, Hoekzema K, Munson KM, Garcia GH, Knuth J, Wertz J, Wang T, Hennick K, Karunakaran D, Polo Prieto RA, Meyer-Schuman R, Cherry F, Pehlivan D, Suter B, Gustafson JA, Miller DE; Human Pangenome Reference Consortium (HPRC); Berk-Rauch H, Nowakowski TJ, Chakravarti A, Zoghbi HY, Eichler EE. (2026). Using the linear references from the pangenome to discover missing autism variants. Nat Commun Jan 23;17(1):1681. doi: 10.1038/s41467-026-68378-4.
Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells
Balzano E, Twayana S, Kosiyatrakul ST, Logsdon GA, Thakur BL, Eichler EE, Bohl B, Koch P, Sidoli S, Kumari A, Munson KM, Hoekzema K, Aladjem MI, Schildkraut CL. (2026). Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells. iScience Jan 15;29(2):114707.
Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation
Yang Z, Zhang L, Jiang X, Yang X, Ma K, Yoo D, Lu Y, Zhang S, Chen J, Nie Y, Bian X, Han J, Fu L, Zhang J, Ventura M, Zhang G, Sun Q, Eichler EE, Mao Y. (2026). Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation. Cell Genom Jan 14;6(1):101079. Epub 2025 Dec 2.
The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.
Jana U, Rodriguez OL, Lees W, Engelbrecht E, Vanwinkle Z, Peres A, Gibson WS, Shields K, Schultze S, Dorgham A, Emery M, Deikus G, Sebra R, Eichler EE, Yaari G, Smith ML, Watson CT. (2026). The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations. Cell Genom Jan 14;6(1):101058. Epub 2025 Oct 27.
Epigenetic and evolutionary features of ape subterminal heterochromatin
Yoo D, Munson KM, Eichler EE. (2026). Epigenetic and evolutionary features of ape subterminal heterochromatin. Genome Res Jan 5;36(1):38–49.
