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Tobias Marschall
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Year
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
AM Wenger, P Peluso, WJ Rowell, PC Chang, RJ Hall, GT Concepcion, ...
Nature biotechnology 37 (10), 1155-1162, 2019
6632019
Whole-genome sequence variation, population structure and demographic history of the Dutch population
TG the Netherlands Consortium
Nature Genetics 46, 818-825, 2014
631*2014
Multi-platform discovery of haplotype-resolved structural variation in human genomes
MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ...
Nature communications 10 (1), 1-16, 2019
5052019
Eleven grand challenges in single-cell data science
D Lähnemann, J Köster, E Szczurek, DJ McCarthy, SC Hicks, ...
Genome biology 21 (1), 1-35, 2020
4732020
Genome-wide patterns and properties of de novo mutations in humans
LC Francioli, PP Polak, A Koren, A Menelaou, S Chun, I Renkens, ...
Nature Genetics 47 (7), 822-826, 2015
3432015
The complete sequence of a human genome
S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ...
Science 376 (6588), 44-53, 2022
3052022
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
M Cretu Stancu, MJ Van Roosmalen, I Renkens, MM Nieboer, ...
Nature communications 8 (1), 1-13, 2017
2592017
Computational pan-genomics: status, promises and challenges
T Marschall, M Marz, T Abeel, L Dijkstra, BE Dutilh, A Ghaffaari, P Kersey, ...
Briefings in Bioinformatics, 2016
248*2016
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
K Shafin, T Pesout, R Lorig-Roach, M Haukness, HE Olsen, C Bosworth, ...
Nature biotechnology 38 (9), 1044-1053, 2020
235*2020
Deep sequencing reveals differential expression of microRNAs in favorable versus unfavorable neuroblastoma
JH Schulte, T Marschall, M Martin, P Rosenstiel, P Mestdagh, S Schlierf, ...
Nucleic acids research 38 (17), 5919-5928, 2010
2122010
WhatsHap: weighted haplotype assembly for future-generation sequencing reads
M Patterson, T Marschall, N Pisanti, L Van Iersel, L Stougie, GW Klau, ...
Journal of Computational Biology 22 (6), 498-509, 2015
2112015
A robust benchmark for detection of germline large deletions and insertions
JM Zook, NF Hansen, ND Olson, L Chapman, JC Mullikin, C Xiao, ...
Nature biotechnology 38 (11), 1347-1355, 2020
188*2020
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ...
Science 372 (6537), eabf7117, 2021
1872021
WhatsHap: fast and accurate read-based phasing
M Martin, M Patterson, S Garg, SO Fischer, N Pisanti, GW Klau, ...
BioRxiv, 085050, 2016
1432016
Characteristics of de novo structural changes in the human genome
WP Kloosterman, LC Francioli, F Hormozdiari, T Marschall, JY Hehir-Kwa, ...
Genome research 25 (6), 792-801, 2015
1302015
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
P Deelen, A Menelaou, EM Van Leeuwen, A Kanterakis, F Van Dijk, ...
European Journal of Human Genetics 22 (11), 1321-1326, 2014
1072014
Viral quasispecies assembly via maximal clique enumeration
A Töpfer, T Marschall, RA Bull, F Luciani, A Schönhuth, N Beerenwinkel
PLoS computational biology 10 (3), e1003515, 2014
1062014
CLEVER: clique-enumerating variant finder
T Marschall, IG Costa, S Canzar, M Bauer, GW Klau, A Schliep, ...
Bioinformatics 28 (22), 2875-2882, 2012
1042012
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
D Porubsky, P Ebert, PA Audano, MR Vollger, WT Harvey, P Marijon, ...
Nature biotechnology 39 (3), 302-308, 2021
90*2021
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
JY Hehir-Kwa, T Marschall, WP Kloosterman, LC Francioli, JA Baaijens, ...
Nature communications 7 (1), 1-10, 2016
892016
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