A complete, telomere-to-telomere human genome sequence presents new opportunities for evolutionary genomics
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Collapsed segmental duplications in GRCh38 and GRCh37, such as the GPRIN2A/B region, often result in erroneous variant calls.
“Furthermore, collapsed segmental duplications in GRCh38 and GRCh37, such as the GPRIN2A/B region [28, 38], often result in erroneous variant calls.”
From A refined analysis of Neanderthal-introgressed sequences in modern humans with a complete reference genome (2025) · cites this paper as [38]
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Liang, S.-A., Ren, T., Zhang, J., He, J., Wang, X., Jiang, X., He, Y., McCoy, R. C., Fu, Q., Akey, J. M., et al. (2025) · Genome Biology · doi:10.1186/s13059-025-03502-z · Cited by 8 · see citing works
Self-citation
- Authors
- Mao, Y., & Zhang, G.
- Affiliations
- Shanghai Jiao Tong University (CN)
- University of Copenhagen (DK)
- Corresponding author
- Mao, Yafei
- Zhang, Guojie
- Venue
- Nature Methods
- Published
- 2022-06
- Volume
- 19
- Issue
- 6
- Pages
- 635-638
- ISSN
- 1548-7091 (ISSN-L)
- 1548-7105
- OpenAlex
- W4281872708
- Cited by
- 50
- References
- 48
- Citations by year
- 2026: 2 · 2025: 12 · 2024: 18 · 2023: 12 · 2022: 6
- FWCI
- 4.00
- Type
- journal article
- Language
- en
- Update notices
- correction (2022-06-22)
- Open access
- closed
- Locations
- Nature Methods (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Villum Fonden (25900)
- International Partnership Program of Chinese Academy of Sciences
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- telomere-to-telomere genome assembly, human genome sequence, complete genome sequence, evolutionary genomics, genome assembly
- MeSH terms
- Base Sequence, Humans, Genome, Human, Telomere, Genomics
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