| 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 | 663 | 2019 |
| 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 | 505 | 2019 |
| 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 | 473 | 2020 |
| 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 | 343 | 2015 |
| 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 | 305 | 2022 |
| 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 | 259 | 2017 |
| 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 | 212 | 2010 |
| 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 | 211 | 2015 |
| 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 | 187 | 2021 |
| WhatsHap: fast and accurate read-based phasing M Martin, M Patterson, S Garg, SO Fischer, N Pisanti, GW Klau, ... BioRxiv, 085050, 2016 | 143 | 2016 |
| 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 | 130 | 2015 |
| 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 | 107 | 2014 |
| 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 | 106 | 2014 |
| CLEVER: clique-enumerating variant finder T Marschall, IG Costa, S Canzar, M Bauer, GW Klau, A Schliep, ... Bioinformatics 28 (22), 2875-2882, 2012 | 104 | 2012 |
| 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 | 89 | 2016 |
Alexander SchönhuthSenior Researcher, Centrum Wiskunde & Informatica, AmsterdamVerified email at cwi.nl
