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Tobias Marschall
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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
9342022
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
9212019
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
6852020
Whole-genome sequence variation, population structure and demographic history of the Dutch population
TG the Netherlands Consortium
Nature Genetics 46, 818-825, 2014
669*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), 1784, 2019
6192019
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
3772015
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
324*2020
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), 1326, 2017
3032017
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
2992021
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
278*2016
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
2772015
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
251*2020
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ...
Cell 185 (18), 3426-3440. e19, 2022
2272022
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
2172010
WhatsHap: fast and accurate read-based phasing
M Martin, M Patterson, S Garg, S O Fischer, N Pisanti, GW Klau, ...
BioRxiv, 085050, 2016
1932016
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
1432015
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
122*2021
The Human Pangenome Project: a global resource to map genomic diversity
T Wang, L Antonacci-Fulton, K Howe, HA Lawson, JK Lucas, AM Phillippy, ...
Nature 604 (7906), 437-446, 2022
1152022
Chromosome-scale, haplotype-resolved assembly of human genomes
S Garg, A Fungtammasan, A Carroll, M Chou, A Schmitt, X Zhou, S Mac, ...
Nature Biotechnology, 1-4, 2020
115*2020
Pangenome graphs
JM Eizenga, AM Novak, JA Sibbesen, S Heumos, A Ghaffaari, G Hickey, ...
Annual review of genomics and human genetics 21, 139-162, 2020
1142020
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