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.
Blog Archives
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
Dishuck PC, Munson KM, Lewis AP, Dougherty ML, Underwood JG, Harvey WT, Hsieh P, Pastinen T, Eichler EE. (2025). Structural variation, selection, and diversification of the NPIP gene family from the human pangenome. bioRxiv [Preprint] Feb 5:2025.02.04.636496. doi: 10.1101/2025.02.04.636496.
Complex genetic variation in nearly complete human genomes
Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie CA, Harvey WT, Zhao X, Martino GV, Henglin M, Munson KM, Rabbani K, Chin CS, Gu B, Ashraf H, Austine-Orimoloye O, Balachandran P, Bonder MJ, Cheng H, Chong Z, Crabtree J, Gerstein M, Guethlein LA, Hasenfeld P, Hickey G, Hoekzema K, Hunt SE, Jensen M, Jiang Y, Koren S, Kwon Y, Li C, Li H, Li J, Norman PJ, Oshima KK, Paten B, Phillippy AM, Pollock NR, Rausch T, Rautiainen M, Scholz S, Song Y, Soylev A, Sulovari A, Surapaneni L, Tsapalou V, Zhou W, Zhou Y, Zhu Q, Zody MC, Mills RE, Devine SE, Shi X, Talkowski ME, Chaisson MJP, Dilthey AT, Konkel MK, Korbel JO, Lee C, Beck CR, Eichler EE, Marschall T. (2024). Complex genetic variation in nearly complete human genomes. bioRxiv [Preprint] Sep 25:2024.09.11.612418. doi: 10.1101/2024.09.24.614721.
SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies
Porubsky D, Guitart X, Yoo D, Dishuck PC, Harvey WT, Eichler EE. (2024). SVbyEye: A visual tool to characterize structural variation among whole-genome assemblies.bioRxiv [Preprint] Sep 17:2024.09.11.612418. doi: 10.1101/2024.09.11.612418.
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.
