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| A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 638 | 2023 |
| 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 | 562 | 2021 |
| Pangenome graphs JM Eizenga, AM Novak, JA Sibbesen, S Heumos, A Ghaffaari, G Hickey, ... Annual review of genomics and human genetics 21 (1), 139-162, 2020 | 252 | 2020 |
| Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes J Ebler, P Ebert, WE Clarke, T Rausch, PA Audano, T Houwaart, Y Mao, ... Nature genetics 54 (4), 518-525, 2022 | 158 | 2022 |
| 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 | 158 | 2021 |
| Pangenome graph construction from genome alignments with Minigraph-Cactus G Hickey, J Monlong, J Ebler, AM Novak, JM Eizenga, Y Gao, T Marschall, ... Nature biotechnology 42 (4), 663-673, 2024 | 151 | 2024 |
| Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders D Porubsky, W Höps, H Ashraf, PH Hsieh, B Rodriguez-Martin, F Yilmaz, ... Cell 185 (11), 1986-2005. e26, 2022 | 107 | 2022 |
| Haplotype threading: accurate polyploid phasing from long reads SD Schrinner, RS Mari, J Ebler, M Rautiainen, L Seillier, JJ Reimer, ... Genome biology 21, 1-22, 2020 | 79 | 2020 |
| Haplotype-aware diplotyping from noisy long reads J Ebler, M Haukness, T Pesout, T Marschall, B Paten Genome biology 20, 1-16, 2019 | 68 | 2019 |
| Gaps and complex structurally variant loci in phased genome assemblies D Porubsky, MR Vollger, WT Harvey, AN Rozanski, P Ebert, G Hickey, ... Genome research 33 (4), 496-510, 2023 | 29 | 2023 |
| A multi-platform reference for somatic structural variation detection JE Valle-Inclan, NJM Besselink, E de Bruijn, DL Cameron, J Ebler, ... Cell Genomics 2 (6), 2022 | 29 | 2022 |
| Pangenome-based genome inference J Ebler, WE Clarke, T Rausch, PA Audano, T Houwaart, J Korbel, ... BioRxiv, 2020.11. 11.378133, 2020 | 27 | 2020 |
| Inversion polymorphism in a complete human genome assembly D Porubsky, WT Harvey, AN Rozanski, J Ebler, W Höps, H Ashraf, ... Genome Biology 24 (1), 100, 2023 | 25 | 2023 |
| Genotyping inversions and tandem duplications J Ebler, A Schönhuth, T Marschall Bioinformatics 33 (24), 4015-4023, 2017 | 18 | 2017 |
| Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall WT Harvey, P Ebert, J Ebler, PA Audano, KM Munson, K Hoekzema, ... Genome research 33 (12), 2029-2040, 2023 | 17 | 2023 |
| A strategy for building and using a human reference pangenome B Llamas, G Narzisi, V Schneider, PA Audano, E Biederstedt, L Blauvelt, ... F1000Research 8, 1751, 2021 | 17 | 2021 |
| Optical genome mapping identifies novel recurrent structural alterations in childhood ETV6:: RUNX1+ and high hyperdiploid acute lymphoblastic leukemia D Brandes, L Yasin, K Nebral, J Ebler, D Schinnerl, D Picard, ... Hemasphere 7 (8), e925, 2023 | 14 | 2023 |
| Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project S Schloissnig, S Pani, B Rodriguez-Martin, J Ebler, C Hain, V Tsapalou, ... bioRxiv, 2024.04. 18.590093, 2024 | 13 | 2024 |
| BubbleGun: enumerating bubbles and superbubbles in genome graphs F Dabbaghie, J Ebler, T Marschall Bioinformatics 38 (17), 4217-4219, 2022 | 11 | 2022 |
