Tobias Marschall
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Explore the profile of Tobias Marschall including associated specialties, affiliations and a list of published articles.
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84
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6115
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Recent Articles
1.
Prodanov T, Plender E, Seebohm G, Meuth S, Eichler E, Marschall T
bioRxiv
. 2025 Feb;
PMID: 39990346
The human genome contains numerous structurally-variable polymorphic loci, including several hundred disease-associated genes, almost inaccessible for accurate variant calling. Here we present Locityper, a tool capable of genotyping such challenging...
2.
Turewicz M, Skagen C, Hartwig S, Majda S, Thedinga K, Herwig R, et al.
Nat Commun
. 2025 Feb;
16(1):1570.
PMID: 39939313
Insulin is a pleiotropic hormone that elicits its metabolic and mitogenic actions through numerous rapid and reversible protein phosphorylations. The temporal regulation of insulin's intracellular signaling cascade is highly complex...
3.
Li C, Bonder M, Syed S, Jensen M, Gerstein M, Zody M, et al.
Genome Res
. 2024 Dec;
34(12):2304-2318.
PMID: 39638559
The human genome is packaged within a three-dimensional (3D) nucleus and organized into structural units known as compartments, topologically associating domains (TADs), and loops. TAD boundaries, separating adjacent TADs, have...
4.
Parmigiani L, Garrison E, Stoye J, Marschall T, Doerr D
Bioinformatics
. 2024 Dec;
40(12).
PMID: 39626271
Motivation: Using a single linear reference genome poses a limitation to exploring the full genomic diversity of a species. The release of a draft human pangenome underscores the increasing relevance...
5.
Karageorgiou C, Kim K, Pajic P, Scheer K, Torregrossa A, Gokcumen O, et al.
Science
. 2024 Oct;
386(6724):eadn0609.
PMID: 39418342
Previous studies suggested that the copy number of the human salivary amylase gene, , correlates with starch-rich diets. However, evolutionary analyses are hampered by the absence of accurate, sequence-resolved haplotype...
6.
Henglin M, Ghareghani M, Harvey W, Porubsky D, Koren S, Eichler E, et al.
Genome Biol
. 2024 Oct;
25(1):265.
PMID: 39390579
Haplotype information is crucial for biomedical and population genetics research. However, current strategies to produce de novo haplotype-resolved assemblies often require either difficult-to-acquire parental data or an intermediate haplotype-collapsed assembly....
7.
Logsdon G, Ebert P, Audano P, Loftus M, Porubsky D, Ebler J, et al.
bioRxiv
. 2024 Oct;
PMID: 39372794
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here, we sequence 65 diverse human genomes and...
8.
Plender E, Prodanov T, Hsieh P, Nizamis E, Harvey W, Sulovari A, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1700-1716.
PMID: 38991590
The secreted mucins MUC5AC and MUC5B are large glycoproteins that play critical defensive roles in pathogen entrapment and mucociliary clearance. Their respective genes contain polymorphic and degenerate protein-coding variable number...
9.
Parmigiani L, Garrison E, Stoye J, Marschall T, Doerr D
bioRxiv
. 2024 Jun;
PMID: 38915671
Motivation: Using a single linear reference genome poses a limitation to exploring the full genomic diversity of a species. The release of a draft human pangenome underscores the increasing relevance...
10.
Schloissnig S, Pani S, Rodriguez-Martin B, Ebler J, Hain C, Tsapalou V, et al.
bioRxiv
. 2024 Apr;
PMID: 38659906
Structural variants (SVs) contribute significantly to human genetic diversity and disease . Previously, SVs have remained incompletely resolved by population genomics, with short-read sequencing facing limitations in capturing the whole...