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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 | 450 | 2021 |
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 | 356 | 2023 |
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 | 193 | 2020 |
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 | 143 | 2021 |
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 | 114 | 2022 |
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 | 74 | 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 | 68 | 2020 |
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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 | 21 | 2022 |
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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 | 14 | 2023 |
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 | 9 | 2023 |
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