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Repeat- and error-aware comparison of deletions.
Wittler R, Marschall T, Schönhuth A, Mäkinen V. Wittler R, et al. Among authors: marschall t. Bioinformatics. 2015 Sep 15;31(18):2947-54. doi: 10.1093/bioinformatics/btv304. Epub 2015 May 15. Bioinformatics. 2015. PMID: 25979471
AVAILABILITY AND IMPLEMENTATION: Implementation is open source and available from https://bitbucket.org/readdi/readdi CONTACT: roland.wittler@uni-bielefeld.de or t.marschall@mpi-inf.mpg.de SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics …
AVAILABILITY AND IMPLEMENTATION: Implementation is open source and available from https://bitbucket.org/readdi/readdi CONTACT: roland.wittle …
Gaps and complex structurally variant loci in phased genome assemblies.
Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C; Human Pangenome Reference Consortium; Korbel JO, Paten B, Marschall T, Eichler EE. Porubsky D, et al. Among authors: marschall t. Genome Res. 2023 Apr;33(4):496-510. doi: 10.1101/gr.277334.122. Epub 2023 May 10. Genome Res. 2023. PMID: 37164484 Free PMC article.
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.
Pangenome graph construction from genome alignments with Minigraph-Cactus.
Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y; Human Pangenome Reference Consortium; Marschall T, Li H, Paten B. Hickey G, et al. Among authors: marschall t. Nat Biotechnol. 2024 Apr;42(4):663-673. doi: 10.1038/s41587-023-01793-w. Epub 2023 May 10. Nat Biotechnol. 2024. PMID: 37165083 Free PMC article.
Benchmarking challenging small variants with linked and long reads.
Wagner J, Olson ND, Harris L, Khan Z, Farek J, Mahmoud M, Stankovic A, Kovacevic V, Yoo B, Miller N, Rosenfeld JA, Ni B, Zarate S, Kirsche M, Aganezov S, Schatz MC, Narzisi G, Byrska-Bishop M, Clarke W, Evani US, Markello C, Shafin K, Zhou X, Sidow A, Bansal V, Ebert P, Marschall T, Lansdorp P, Hanlon V, Mattsson CA, Barrio AM, Fiddes IT, Xiao C, Fungtammasan A, Chin CS, Wenger AM, Rowell WJ, Sedlazeck FJ, Carroll A, Salit M, Zook JM. Wagner J, et al. Among authors: marschall t. Cell Genom. 2022 May;2(5):100128. doi: 10.1016/j.xgen.2022.100128. Cell Genom. 2022. PMID: 36452119 Free PMC article.
Efficient exact motif discovery.
Marschall T, Rahmann S. Marschall T, et al. Bioinformatics. 2009 Jun 15;25(12):i356-64. doi: 10.1093/bioinformatics/btp188. Bioinformatics. 2009. PMID: 19478010 Free PMC article.
CLEVER: clique-enumerating variant finder.
Marschall T, Costa IG, Canzar S, Bauer M, Klau GW, Schliep A, Schönhuth A. Marschall T, et al. Bioinformatics. 2012 Nov 15;28(22):2875-82. doi: 10.1093/bioinformatics/bts566. Epub 2012 Oct 11. Bioinformatics. 2012. PMID: 23060616
139 results