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 | 291 | 2022 |
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 | 276 | 2022 |
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 |
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 |
Increased mutation and gene conversion within human segmental duplications MR Vollger, PC Dishuck, WT Harvey, WS DeWitt, X Guitart, ME Goldberg, ... Nature 617 (7960), 325-334, 2023 | 41 | 2023 |
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation M Kolmogorov, KJ Billingsley, M Mastoras, M Meredith, J Monlong, ... Nature Methods 20 (10), 1483-1492, 2023 | 40 | 2023 |
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 | 20 | 2023 |
Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph H Cheng, M Asri, J Lucas, S Koren, H Li Nature Methods, 1-4, 2024 | 18 | 2024 |
Phased nanopore assembly with Shasta and modular graph phasing with GFAse R Lorig-Roach, M Meredith, J Monlong, M Jain, HE Olsen, B McNulty, ... Genome Research 34 (3), 454-468, 2024 | 8 | 2024 |
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome HJ Lee, SU Greer, DS Pavlichin, B Zhou, AE Urban, T Weissman, ... Cell Reports Methods 3 (8), 2023 | 3 | 2023 |
Automated assembly of high-quality diploid human reference genomes. In bioRxiv (p. 2022.03. 06.483034) ED Jarvis, G Formenti, A Rhie, A Guarracino, C Yang, J Wood, A Tracey, ... | 2 | 2022 |