Long-read sequence assembly of the gorilla genome
Open accessAbstract
Improving on the gorilla genome: Access to complete, high-quality genomes of nonhuman primates will also help us understand human biology. Gordon et al. used long-read sequencing technology to improve genome data on our close relative the gorilla. Sequencing from a single individual decreased assembly fragmentation and recovered previously missed genes and noncoding loci. Mapping short-read sequences from additional gorillas helped reconstruct a “pan” gorilla sequence documenting genetic variation. Comparison with human genomes revealed species-specific differences ranging in size from one to thousands of bases in length, including some that are likely to affect gene regulation. Science , this issue p. 10.1126/science.aae0344
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Progressive Cactus has been developed over several years and has already been successfully used as an integral component of high-profile comparative genomics projects.
“Progressive Cactus has been developed over several years, and has already been successfully used as an integral component of high-profile comparative genomics projects16–20.”
From Progressive Cactus is a multiple-genome aligner for the thousand-genome era (2020) · cites this paper as [18]
The Abstract and Comparative analyses section describe a gorilla-genome assembly and comparisons with human, but do not identify Progressive Cactus as a component. Searches for “Progressive Cactus” and Cactus genome alignment found no passage addressing its use in this project or its development over several years. Page numbers were not available in our copy. (LLM, conf=0.70)
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- Authors
- Gordon, D., Huddleston, J., Chaisson, M. J. P., Hill, C. M., Kronenberg, Z. N., Munson, K. M., Malig, M., Raja, A., Fiddes, I., Hillier, L. W., Dunn, C., Baker, C., Armstrong, J., Diekhans, M., Paten, B., Shendure, J., Wilson, R. K., Haussler, D., Chin, C.-S., & Eichler, E. E.
- Affiliations
- Howard Hughes Medical Institute (US)
- University of Washington (US)
- Washington University in St. Louis (US)
- Pacific Biosciences (United States) (US)
- Corresponding author
- Gordon, David
- Huddleston, John
- Chaisson, Mark J. P.
- Hill, Christopher M.
- Kronenberg, Zev N.
- Eichler, Evan E.
- ORCID
- Venue
- Science
- Published
- 2016-04
- Volume
- 352
- Issue
- 6281
- Pages
- aae0344-aae0344
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4920363
- OpenAlex
- W2323608404
- Cited by
- 333
- References
- 7
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 14 · 2023: 11 · 2022: 18 · 2021: 34 · 2020: 50 · 2019: 73 · 2018: 47 · 2017: 49 · 2016: 26
- FWCI
- 27.76
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- U.S. National Institutes of Health (HG002385, HG007635, HG003079, HG007990, HG007234)
- Howard Hughes Medical Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Keywords
- long-read sequencing, single-molecule real-time sequencing, de novo genome assembly, segmental duplication, structural variants, gene loss, genetic diversity, primate genomics
- MeSH terms
- Animals, Female, Gorilla gorilla, Humans, Genetic Variation, Genome, Human, Sequence Alignment, Sequence Analysis, DNA, Evolution, Molecular, Expressed Sequence Tags, Contig Mapping, Genomics
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