De novo assembly of the cattle reference genome with single-molecule sequencing
Open accessAbstract
BACKGROUND: Major advances in selection progress for cattle have been made following the introduction of genomic tools over the past 10-12 years. These tools depend upon the Bos taurus reference genome (UMD3.1.1), which was created using now-outdated technologies and is hindered by a variety of deficiencies and inaccuracies. RESULTS: We present the new reference genome for cattle, ARS-UCD1.2, based on the same animal as the original to facilitate transfer and interpretation of results obtained from the earlier version, but applying a combination of modern technologies in a de novo assembly to increase continuity, accuracy, and completeness. The assembly includes 2.7 Gb and is >250× more continuous than the original assembly, with contig N50 >25 Mb and L50 of 32. We also greatly expanded supporting RNA-based data for annotation that identifies 30,396 total genes (21,039 protein coding). The new reference assembly is accessible in annotated form for public use. CONCLUSIONS: We demonstrate that improved continuity of assembled sequence warrants the adoption of ARS-UCD1.2 as the new cattle reference genome and that increased assembly accuracy will benefit future research on this species.
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Traditional genomic studies have heavily relied on a single linear reference genome, such as ARS-UCD1.2, which is derived from Hereford.
“Traditional genomic studies have heavily relied on a single linear reference genome [180], such as ARS-UCD1.2, which is derived from an individual of a specific taurine breed, Hereford [181] (Table 3).”
From The Genomic Landscape of Cattle: Domestication, Dispersal, and Adaptive Evolution (2026) · cites this paper as [181]
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Pangenome-genotyped structural variation improves molecular phenotype mapping in cattlePreprint
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Assembly of complete diploid-phased chromosomes from draft genome sequences
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A multi-tissue single-cell expression atlas in cattle
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One-step generation of a targeted knock-in calf using the CRISPR-Cas9 system in bovine zygotes
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Genomic signatures for drylands adaptation at gene-rich regions in African zebu cattle
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Trajectory of livestock genomics in South Asia: A comprehensive review
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X chromosome variants are associated with male fertility traits in two bovine populations
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Population differentiated copy number variation of Bos taurus, Bos indicus and their African hybrids
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Sequence-based GWAS meta-analyses for beef production traits
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Olagunju, T., Rosen, B. D., Neibergs, H. L., Becker, G. M., Davenport, K. M., Elsik, C. G., Hadfield, T. S., Koren, S., Kuhn, K. L., Rhie, A., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-52384-5 · Cited by 35 · see citing works
A low-density SNP genotyping panel for the accurate prediction of cattle breeds
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Single-cell transcriptomic analyses of dairy cattle ruminal epithelial cells during weaning
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Prowse-Wilkins, C., Lopdell, T., Xiang, R., Jagt, C. J. V., Littlejohn, M. D., Chamberlain, A. J., & Goddard, M. E. (2022) · BMC Genomics · doi:10.1186/s12864-022-09002-9 · Cited by 33 · see citing works
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Chen, L., Pryce, J. E., Hayes, B. J., & Daetwyler, H. D. (2021) · Animals · doi:10.3390/ani11020541 · Cited by 30 · see citing works
Profiling the immune epigenome across global cattle breeds
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Forutan, M., Engle, B. N., Chamberlain, A. J., Ross, E. M., Nguyen, L. T., D’Occhio, M. J., Snr, A. C., Kho, E. A., Fordyce, G., Speight, S., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-06403-2 · Cited by 31 · see citing works
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Investigating the impact of reference assembly choice on genomic analyses in a cattle breed
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Molecular quantitative trait loci in reproductive tissues impact male fertility in cattle
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Paguem, A., Abanda, B., Achukwi, M. D., Baskaran, P., Czemmel, S., Renz, A., & Eisenbarth, A. (2020) · BMC Genetics · doi:10.1186/s12863-020-00869-9 · Cited by 28 · see citing works
Hiltpold, M., Kadri, N. K., Janett, F., Witschi, U., Schmitz‐Hsu, F., & Pausch, H. (2021) · BMC Genomics · doi:10.1186/s12864-021-07523-3 · Cited by 28 · see citing works
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Variations in antibody repertoires correlate with vaccine responsesPreprint
Safonova, Y., Shin, S. B., Kramer, L., Reecy, J. M., Watson, C. T., Smith, T. P. L., & Pevzner, P. A. (2022) · Genome Research · doi:10.1101/gr.276027.121 · Cited by 28 · see citing works
Candidate genes for mastitis resistance in dairy cattle: a data integration approach
Brajnik, Z., & Ogorevc, J. (2023) · Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology · doi:10.1186/s40104-022-00821-0 · Cited by 31 · see citing works
Genome-wide association study for carcass weight in pasture-finished beef cattle in Hawai’i
Adhikari, M., Kantar, M. B., Longman, R. J., Lee, C. N., Oshiro, M. A., Caires, K. C., & He, Y. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1168150 · Cited by 27 · see citing works
Zhao, P., Wang, D., Teng, J., Yang, C., Zhang, X., Wei, X., & Zhang, Q. (2023) · Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology · doi:10.1186/s40104-023-00880-x · Cited by 28 · see citing works
van Staaveren, N., de Oliveira, H. R., Houlahan, K., Chud, T. C. S., Júnior, G. A. O., Hailemariam, D., Kistemaker, G. J., Miglior, F., Plastow, G. S., Schenkel, F. S., et al. (2023) · Journal of Dairy Science · doi:10.3168/jds.2022-22951 · Cited by 27 · see citing works
Duarte, J. L. G., Yuan, C., Gori, A.-S., Moreira, G. C. M., Takeda, H., Coppieters, W. R., Charlier, C., Georges, M., & Druet, T. (2023) · Genetics Selection Evolution · doi:10.1186/s12711-023-00857-4 · Cited by 30 · see citing works
Integrative genomics of the mammalian alveolar macrophage response to intracellular mycobacteria
Hall, T. J., Mullen, M. P., McHugo, G. P., Killick, K. E., Ring, S. C., Berry, D. P., Correia, C. N., Browne, J. A., Gordon, S. V., & MacHugh, D. E. (2021) · BMC Genomics · doi:10.1186/s12864-021-07643-w · Cited by 30 · see citing works
Halstead, M. M., Islas‐Trejo, A., Goszczynski, D. E., Medrano, J. F. F., Zhou, H., & Ross, P. J. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.664260 · Cited by 26 · see citing works
Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle
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A High-Quality Blue Whale Genome, Segmental Duplications, and Historical Demography
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Genomic regions underlying positive selection in local, Alpine cattle breeds
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Genome-Wide Association Analyses of Fertility Traits in Beef Heifers
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An Epigenetic Aging Clock for Cattle Using Portable Sequencing Technology
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GWAS and genomic prediction of milk urea nitrogen in Australian and New Zealand dairy cattle
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De novo genome assembly depicts the immune genomic characteristics of cattle
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Whole genome sequencing of simmental cattle for SNP and CNV discovery
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Cross-species oncogenomics offers insight into human muscle-invasive bladder cancer
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- Authors
- Rosen, B. D., Bickhart, D. M., Schnabel, R. D., Koren, S., Elsik, C. G., Tseng, E., Rowan, T. N., Low, W. Y., Zimin, A., Couldrey, C., Hall, R., Li, W., Rhie, A., Ghurye, J., McKay, S. D., Thibaud-Nissen, F., Hoffman, J., Murdoch, B. M., Snelling, W. M., McDaneld, T. G., Hammond, J. A., Schwartz, J. C., Nandolo, W., Hagen, D. E., Dreischer, C., Schultheiss, S. J., Schroeder, S. G., Phillippy, A. M., Cole, J. B., Van Tassell, C. P., Liu, G., Smith, T. P. L., & Medrano, J. F.
- Affiliations
- Agricultural Research Service (US)
- University of Missouri (US)
- National Institutes of Health (US)
- Pacific Biosciences (United States) (US)
- The University of Adelaide (AU)
- Johns Hopkins University (US)
- Livestock Improvement Corporation (NZ)
- University of Maryland, College Park (US)
- University of Vermont (US)
- National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health , Bethesda, MD 20894,
- University of Idaho (US)
- The Pirbright Institute (GB)
- Lilongwe University of Agriculture and Natural Resources (MW)
- Oklahoma State University (US)
- Computomics GmbH , Christophstr. 32, 72072 Tübingen,
- USDA-ARS, Beltsville, MD, 20705-2350 , Animal Genomics and Improvement Laboratory , USDA-ARS, 10300 Baltimore Ave, Beltsville, MD 20705-2350,
- University of California, Davis (US)
- Corresponding author
- Rosen, Benjamin D
- Smith, Timothy P L
- ORCID
- Rosen, Benjamin D
- Bickhart, Derek M
- Schnabel, Robert D
- Koren, Sergey
- Elsik, Christine G
- Tseng, Elizabeth
- Rowan, Troy N
- Low, Wai Y
- Zimin, Aleksey
- Couldrey, Christine
- Hall, Richard
- Li, Wenli
- Rhie, Arang
- Ghurye, Jay
- McKay, Stephanie D
- Murdoch, Brenda M
- Snelling, Warren M
- McDaneld, Tara G
- Hammond, John A
- Schwartz, John C
- Nandolo, Wilson
- Hagen, Darren E
- Schultheiss, Sebastian J
- Schroeder, Steven G
- Phillippy, Adam M
- Cole, John B
- Van Tassell, Curtis P
- Liu, George
- Smith, Timothy P L
- Medrano, Juan F
- Venue
- GigaScience
- Publisher
- Oxford University Press (OUP)
- Published
- 2020-03-01
- Volume
- 9
- Issue
- 3
- ISSN
- 2047-217X (ISSN-L)
- PMC
- PMC7081964
- OpenAlex
- W3011183076
- Cited by
- 802
- References
- 35
- Citations by year
- 2026: 84 · 2025: 102 · 2024: 165 · 2023: 145 · 2022: 125 · 2021: 120 · 2020: 59
- FWCI
- 37.47
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- GigaScience (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- Funders
- U.S. Department of Agriculture (8042-31000-001-00-D, 8042-31000-002-00-D, 5090-31000-026-00-D, 3040-31000-100-00-D)
- National Institute of Food and Agriculture (5090-31000-026-06-I, 2016-68004-24827, 2013-67015-21202, MO-HAAS0001, 2015-67015-23183)
- U.S. National Library of Medicine
- National Institutes of Health
- Biotechnology and Biological Sciences Research Council (BB/M027155/1, BBS/E/I/00007035, BBS/E/I/00007038, BBS/E/I/00007039)
- National Human Genome Research Institute
- Korea Health Industry Development Institute
- Ministry of Health (HI17C2098)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- cattle, de novo genome assembly, single-molecule sequencing, genome annotation, cattle genomics
- MeSH terms
- RNA-Seq, Animals, Breeding, Cattle, Polymorphism, Genetic, Reference Standards, Genome, Sequence Analysis, DNA, Genomics
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