| 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 | 960 | 2022 |
| 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 | 934 | 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 | 691 | 2020 |
| Whole-genome sequence variation, population structure and demographic history of the Dutch population TG the Netherlands Consortium Nature Genetics 46, 818-825, 2014 | 670* | 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 | 622 | 2019 |
| 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 | 377 | 2015 |
| 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 | 325* | 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 | 303 | 2021 |
| 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 | 303 | 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 | 279* | 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 | 279 | 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 | 252* | 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 | 230 | 2022 |
| 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 | 218 | 2010 |
| WhatsHap: fast and accurate read-based phasing M Martin, M Patterson, S Garg, S O Fischer, N Pisanti, GW Klau, ... BioRxiv, 085050, 2016 | 193 | 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 | 143 | 2015 |
| 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 | 123* | 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 | 117 | 2022 |
| 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 | 114 | 2020 |
Alexander SchönhuthFull Professor, Faculty for Technology, Bielefeld UniversityVerified email at cebitec.uni-bielefeld.de
