KV, et al. (2025). Population-scale Long-read Sequencing in the All of Us Research Program. medRxiv [Preprint] Oct 5:2025.10.02.25336942. doi: 10.1101/2025.10.02.25336942.
Blog Archives
Pangenome discovery of 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. (2025). Pangenome discovery of missing autism variants. medRxiv [Preprint] Jul 22:2025.07.21.25331932. doi: 10.1101/2025.07.21.25331932.
Long-read sequencing of trios 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. (2025). Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA. bioRxiv [Preprint] Jul 19:2025.07.18.665621. doi: 10.1101/2025.07.18.665621.
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion
Porubsky D, Yoo D, Dishuck PC, Koundinya N, Souche E, Harvey WT, Munson KM, Hoekzema K, Chan DD, Leung TY, Santos MS, Meynants S, Swillen A, Breckpot J, Tsapalou V, Hasenfeld P, Korbel JO, Lansdorp PM, Vermeesch JR, Eichler EE. (2025). Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion. bioRxiv [Preprint] Jul 7:2025.07.04.662981. doi: 10.1101/2025.07.04.662981.
A global map for introgressed structural variation and selection in humans
Hsieh P, Soisangwan N, Gordon DS, Javidh A, Harvey WT, Porubsky D, Hoekzema K, Baker C, Munson KM, Kinipi C, Leavesley M, Brucato N, Cox MP, Ricaut FX, Gallego Romero I, Eichler EE. (2025). A global map for introgressed structural variation and selection in humans. bioRxiv [Preprint] Jun 24:2025.06.24.661368. doi: 10.1101/2025.06.24.661368.
A haplotype-resolved view of human gene regulation
Vollger MR, Swanson EG, Neph SJ, Ranchalis J, Munson KM, Ho CH, Cheng YHH, Sedeno-Cortes AE, Fondrie WE, Bohaczuk SC, Dippel MA, Mao Y, Parmalee NL, Mallory BJ, Harvey WT, Kwon Y, Garcia GH, Hoekzema K, Meyer JG, Cicek M, Eichler EE, Noble WS, Witten DM, Bennett JT, Ray JP, Stergachis AB. (2025). A haplotype-resolved view of human gene regulation. bioRxiv [Preprint] Jun 2:2024.06.14.599122. doi: 10.1101/2024.06.14.599122.
Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
Real TD, Hebbar P, Yoo D, Antonacci F, Pačar I, 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. (2025). Genetic diversity and regulatory features of human-specific NOTCH2NL duplications. bioRxiv [Preprint] Mar 17:2025.03.14.643395. doi: 10.1101/2025.03.14.643395.
Complete chromosome 21 centromere sequences from a Down syndrome family reveal size asymmetry and differences in kinetochore attachment
Mastrorosa FK, Rozanski AN, Harvey WT, Knuth J, Garcia G, Munson KM, Hoekzema K, Logsdon GA, Eichler EE. (2024). Complete chromosome 21 centromere sequences from a Down syndrome family reveal size asymmetry and differences in kinetochore attachment. bioRxiv [Preprint] Feb 26:2024.02.25.581464. doi: 10.1101/2024.02.25.581464.
Structural variation across 138,134 samples in the TOPMed consortium
Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, Shen H, Pasham D, Bhamidipati S, Kottapalli K, Arnett DK, Ashley-Koch A, Auer PL, Beutel KM, Bis JC, Blangero J, Bowden DW, Brody JA, Cade BE, Chen YI, Cho MH, Curran JE, Fornage M, Freedman BI, Fingerlin T, Gelb BD, Hou L, Hung YJ, Kane JP, Kaplan R, Kim W, Loos RJF, Marcus GM, Mathias RA, McGarvey ST, Montgomery C, Naseri T, Nouraie SM, Preuss MH, Palmer ND, Peyser PA, Raffield LM, Ratan A, Redline S, Reupena S, Rotter JI, Rich SS, Rienstra M, Ruczinski I, Sankaran VG, Schwartz DA, Seidman CE, Seidman JG, Silverman EK, Smith JA, Stilp A, Taylor KD, Telen MJ, Weiss ST, Williams LK, Wu B, Yanek LR, Zhang Y, Lasky-Su J, Gingras MC, Dutcher SK, Eichler EE, Gabriel S, Germer S, Kim R, Viaud-Martinez KA, Nickerson DA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Luo J, Reiner A, Gibbs RA, Boerwinkle E, Abecasis G, Sedlazeck FJ. (2023). Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv [Preprint] Jan 25:2023.01.25.525428. doi: 10.1101/2023.01.25.525428.
