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Read-based phasing of related individuals.
Garg S, Martin M, Marschall T. Garg S, et al. Among authors: marschall t. Bioinformatics. 2016 Jun 15;32(12):i234-i242. doi: 10.1093/bioinformatics/btw276. Bioinformatics. 2016. PMID: 27307622 Free PMC article.
AVAILABILITY AND IMPLEMENTATION: https://bitbucket.org/whatshap/whatshap CONTACT: t.marschall@mpi-inf.mpg.de....
AVAILABILITY AND IMPLEMENTATION: https://bitbucket.org/whatshap/whatshap CONTACT: t.marschall@mpi-inf.mpg.de....
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.
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.
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, Söylev 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. Logsdon GA, et al. Among authors: marschall t. bioRxiv [Preprint]. 2024 Sep 25:2024.09.24.614721. doi: 10.1101/2024.09.24.614721. bioRxiv. 2024. PMID: 39372794 Free PMC article. Preprint.
Inversion polymorphism in a complete human genome assembly.
Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P; Human Pangenome Reference Consortium (HPRC); Human Genome Structural Variation Consortium (HGSVC); Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE. Porubsky D, et al. Among authors: marschall t. Genome Biol. 2023 Apr 30;24(1):100. doi: 10.1186/s13059-023-02919-8. Genome Biol. 2023. PMID: 37122002 Free PMC article.
Temporal phosphoproteomics reveals circuitry of phased propagation in insulin signaling.
Turewicz M, Skagen C, Hartwig S, Majda S, Thedinga K, Herwig R, Binsch C, Altenhofen D, Ouwens DM, Förster PM, Wachtmeister T, Köhrer K, Stermann T, Chadt A, Lehr S, Marschall T, Thoresen GH, Al-Hasani H. Turewicz M, et al. Among authors: marschall t. Nat Commun. 2025 Feb 12;16(1):1570. doi: 10.1038/s41467-025-56335-6. Nat Commun. 2025. PMID: 39939313 Free PMC article.
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.
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.
146 results