Cited by 858Genomics and Phylogenetic StudiesGenetic and phenotypic traits in livestockGenomic variations and chromosomal abnormalities

De novo assembly of the cattle reference genome with single-molecule sequencing

Open access
Rosen, Benjamin D, Bickhart, Derek M, Schnabel, Robert D, Koren, Sergey, Elsik, Christine G, Tseng, Elizabeth, Rowan, Troy N, Low, Wai Y +25 more·2020·GigaScience

Abstract

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 These tools depend upon the Bos taurus reference genome (UMD3.1.1), which was created using now-outdated technologies and is hindered by a variety of deficiencies and inaccuracies.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).”

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Research works printed but not linked: 4

  1. [29]Gnomon - the NCBI eukaryotic gene prediction tool. https://www.ncbi.nlm.nih.gov/genome/annotation_euk/gnomon/. Accessed on 8 August 2019.
  2. [32]Bos taurus Annotation Report 106. https://www.ncbi.nlm.nih.gov/genome/annotation_euk/Bos_taurus/106/. Accessed on 15 August 2019.
  3. [33]Bos taurus Annotation Report 105. https://www.ncbi.nlm.nih.gov/genome/annotation_euk/Bos_taurus/105/. Accessed on 15 August 2019.
  4. [41]Null DJ, VanRaden PM, Rosen BD, et al. Using the ARS-UCD1.2 reference genome in U.S. evaluations. Interbull Bull. 2019; 55: 30– 34.

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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
Venue
GigaScience
Published
2020-03-01
Volume
9
Issue
3
ISSN
2047-217X (ISSN-L)
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
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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