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 | 2028 | 2022 |
Long-read human genome sequencing and its applications GA Logsdon, MR Vollger, EE Eichler Nature Reviews Genetics 21 (10), 597-614, 2020 | 791 | 2020 |
Telomere-to-telomere assembly of a complete human X chromosome KH Miga, S Koren, A Rhie, MR Vollger, A Gershman, A Bzikadze, ... Nature 585 (7823), 79-84, 2020 | 710 | 2020 |
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads S Nurk, BP Walenz, A Rhie, MR Vollger, GA Logsdon, R Grothe, KH Miga, ... Genome research 30 (9), 1291-1305, 2020 | 565 | 2020 |
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 | 442* | 2020 |
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 | 393 | 2023 |
Complete genomic and epigenetic maps of human centromeres N Altemose, GA Logsdon, AV Bzikadze, P Sidhwani, SA Langley, ... Science 376 (6588), eabl4178, 2022 | 290 | 2022 |
The structure, function and evolution of a complete human chromosome 8 GA Logsdon, MR Vollger, PH Hsieh, Y Mao, MA Liskovykh, S Koren, ... Nature 593 (7857), 101-107, 2021 | 273 | 2021 |
A complete reference genome improves analysis of human genetic variation S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate, P Avdeyev, ... Science 376 (6588), eabl3533, 2022 | 232 | 2022 |
From telomere to telomere: The transcriptional and epigenetic state of human repeat elements SJ Hoyt, JM Storer, GA Hartley, PGS Grady, A Gershman, LG de Lima, ... Science 376 (6588), eabk3112, 2022 | 204 | 2022 |
Segmental duplications and their variation in a complete human genome MR Vollger, X Guitart, PC Dishuck, L Mercuri, WT Harvey, A Gershman, ... Science 376 (6588), eabj6965, 2022 | 195 | 2022 |
Epigenetic patterns in a complete human genome A Gershman, MEG Sauria, X Guitart, MR Vollger, PW Hook, SJ Hoyt, ... Science 376 (6588), eabj5089, 2022 | 189 | 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 | 169* | 2021 |
Long-read sequence and assembly of segmental duplications MR Vollger, PC Dishuck, M Sorensen, AME Welch, V Dang, ... Nature methods, 1, 2018 | 159 | 2018 |
The complete sequence of a human Y chromosome A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor, N Altemose, PW Hook, ... Nature 621 (7978), 344-354, 2023 | 157 | 2023 |
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads MR Vollger, GA Logsdon, PA Audano, A Sulovari, D Porubsky, P Peluso, ... Annals of human genetics 84 (2), 125-140, 2020 | 130 | 2020 |
Semi-automated assembly of high-quality diploid human reference genomes ED Jarvis, G Formenti, A Rhie, A Guarracino, C Yang, J Wood, A Tracey, ... Nature 611 (7936), 519-531, 2022 | 120 | 2022 |
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility WC Warren, RA Harris, M Haukness, IT Fiddes, SC Murali, J Fernandes, ... Science 370 (6523), eabc6617, 2020 | 117 | 2020 |
Human-specific tandem repeat expansion and differential gene expression during primate evolution A Sulovari, R Li, PA Audano, D Porubsky, MR Vollger, GA Logsdon, ... Proceedings of the National Academy of Sciences 116 (46), 23243-23253, 2019 | 98 | 2019 |
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes PH Hsieh, MR Vollger, V Dang, D Porubsky, C Baker, S Cantsilieris, ... Science 366 (6463), eaax2083, 2019 | 73 | 2019 |