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Structural and genetic diversity in the secreted mucins, MUC5AC and MUC5B.
Plender EG, Prodanov T, Hsieh P, Nizamis E, Harvey WT, Sulovari A, Munson KM, Kaufman EJ, O'Neal WK, Valdmanis PN, Marschall T, Bloom JD, Eichler EE. Plender EG, et al. Among authors: marschall t. bioRxiv [Preprint]. 2024 Mar 20:2024.03.18.585560. doi: 10.1101/2024.03.18.585560. bioRxiv. 2024. Update in: Am J Hum Genet. 2024 Aug 8;111(8):1700-1716. doi: 10.1016/j.ajhg.2024.06.007. PMID: 38562829 Free PMC article. Updated. Preprint.
A multi-platform reference for somatic structural variation detection.
Espejo Valle-Inclan J, Besselink NJM, de Bruijn E, Cameron DL, Ebler J, Kutzera J, van Lieshout S, Marschall T, Nelen M, Priestley P, Renkens I, Roemer MGM, van Roosmalen MJ, Wenger AM, Ylstra B, Fijneman RJA, Kloosterman WP, Cuppen E. Espejo Valle-Inclan J, et al. Among authors: marschall t. Cell Genom. 2022 Jun 8;2(6):100139. doi: 10.1016/j.xgen.2022.100139. eCollection 2022 Jun 8. Cell Genom. 2022. PMID: 36778136 Free PMC article.
A draft human pangenome reference.
Liao WW, Asri M, Ebler J, Doerr D, Haukness M, Hickey G, Lu S, Lucas JK, Monlong J, Abel HJ, Buonaiuto S, Chang XH, Cheng H, Chu J, Colonna V, Eizenga JM, Feng X, Fischer C, Fulton RS, Garg S, Groza C, Guarracino A, Harvey WT, Heumos S, Howe K, Jain M, Lu TY, Markello C, Martin FJ, Mitchell MW, Munson KM, Mwaniki MN, Novak AM, Olsen HE, Pesout T, Porubsky D, Prins P, Sibbesen JA, Sirén J, Tomlinson C, Villani F, Vollger MR, Antonacci-Fulton LL, Baid G, Baker CA, Belyaeva A, Billis K, Carroll A, Chang PC, Cody S, Cook DE, Cook-Deegan RM, Cornejo OE, Diekhans M, Ebert P, Fairley S, Fedrigo O, Felsenfeld AL, Formenti G, Frankish A, Gao Y, Garrison NA, Giron CG, Green RE, Haggerty L, Hoekzema K, Hourlier T, Ji HP, Kenny EE, Koenig BA, Kolesnikov A, Korbel JO, Kordosky J, Koren S, Lee H, Lewis AP, Magalhães H, Marco-Sola S, Marijon P, McCartney A, McDaniel J, Mountcastle J, Nattestad M, Nurk S, Olson ND, Popejoy AB, Puiu D, Rautiainen M, Regier AA, Rhie A, Sacco S, Sanders AD, Schneider VA, Schultz BI, Shafin K, Smith MW, Sofia HJ, Abou Tayoun AN, Thibaud-Nissen F, Tricomi FF, Wagner J, Walenz B, Wood JMD, Zimin AV, Bourque G, Chaisson MJP, Flicek P, Phillippy AM, Zook JM, Eichler EE, … See abstract for full author list ➔ Liao WW, et al. Among authors: marschall t. Nature. 2023 May;617(7960):312-324. doi: 10.1038/s41586-023-05896-x. Epub 2023 May 10. Nature. 2023. PMID: 37165242 Free PMC article.
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project.
Schloissnig S, Pani S, Rodriguez-Martin B, Ebler J, Hain C, Tsapalou V, Söylev A, Hüther P, Ashraf H, Prodanov T, Asparuhova M, Hunt S, Rausch T, Marschall T, Korbel JO. Schloissnig S, et al. Among authors: marschall t. bioRxiv [Preprint]. 2024 Apr 20:2024.04.18.590093. doi: 10.1101/2024.04.18.590093. bioRxiv. 2024. PMID: 38659906 Free PMC article. Preprint.
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes.
Li C, Bonder MJ, Syed S, Jensen M; Human Genome Structural Variation Consortium (HGSVC); HGSVC Functional Analysis Working Group; Gerstein MB, Zody MC, Chaisson MJP, Talkowski ME, Marschall T, Korbel JO, Eichler EE, Lee C, Shi X. Li C, et al. Among authors: marschall t. Genome Res. 2024 Dec 23;34(12):2304-2318. doi: 10.1101/gr.279419.124. Genome Res. 2024. PMID: 39638559 Free PMC article.
Assembly of 43 human Y chromosomes reveals extensive complexity and variation.
Hallast P, Ebert P, Loftus M, Yilmaz F, Audano PA, Logsdon GA, Bonder MJ, Zhou W, Höps W, Kim K, Li C, Hoyt SJ, Dishuck PC, Porubsky D, Tsetsos F, Kwon JY, Zhu Q, Munson KM, Hasenfeld P, Harvey WT, Lewis AP, Kordosky J, Hoekzema K; Human Genome Structural Variation Consortium (HGSVC); O'Neill RJ, Korbel JO, Tyler-Smith C, Eichler EE, Shi X, Beck CR, Marschall T, Konkel MK, Lee C. Hallast P, et al. Among authors: marschall t. Nature. 2023 Sep;621(7978):355-364. doi: 10.1038/s41586-023-06425-6. Epub 2023 Aug 23. Nature. 2023. PMID: 37612510 Free PMC article.
Locityper: targeted genotyping of complex polymorphic genes.
Prodanov T, Plender EG, Seebohm G, Meuth SG, Eichler EE, Marschall T. Prodanov T, et al. Among authors: marschall t. bioRxiv [Preprint]. 2025 Feb 14:2024.05.03.592358. doi: 10.1101/2024.05.03.592358. bioRxiv. 2025. PMID: 39990346 Free PMC article. Preprint.
146 results