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Evolution of genetic and genomic features unique to the human lineage
Open accessAbstract
Given the unprecedented tools that are now available for rapidly comparing genomes, the identification and study of genetic and genomic changes that are unique to our species have accelerated, and we are entering a golden age of human evolutionary genomics. Here we provide an overview of these efforts, highlighting important recent discoveries, examples of the different types of human-specific genomic and genetic changes identified, and salient trends, such as the localization of evolutionary adaptive changes to complex loci that are highly enriched for disease associations. Finally, we discuss the remaining challenges, such as the incomplete nature of current genome sequence assemblies and difficulties in linking human-specific genomic changes to human-specific phenotypic traits.
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“However, changes in structural variants or regions of the genome that are not accessible by current sequencing technologies will most likely complement our results45.”
From A catalog of single nucleotide changes distinguishing modern humans from archaic hominins (2019) · cites this paper as [45]
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Metadata
- Authors
- O'Bleness, M., Searles, V. B., Varki, A., Gagneux, P., & Sikela, J. M.
- Affiliations
- University of Colorado Anschutz (US)
- University of California San Diego (US)
- Center for Academic Research and Training in Anthropogeny (US)
- Corresponding author
- Sikela, James M.
- Venue
- Nature Reviews Genetics
- Published
- 2012-11-16
- Volume
- 13
- Issue
- 12
- Pages
- 853-866
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC4097811
- OpenAlex
- W2008252053
- Cited by
- 168
- References
- 132
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 18 · 2023: 16 · 2022: 6 · 2021: 14 · 2020: 7 · 2019: 8 · 2018: 10 · 2017: 12 · 2016: 13 · 2015: 18 · 2014: 19 · 2013: 13 · 2012: 2
- FWCI
- 19.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- G. Harold and Leila Y. Mathers Foundation
- National Institutes of Health
- National Institute of General Medical Sciences (R01GM095882)
- Topics
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- human evolution, primate genomics, human lineage, adaptive evolution, disease-associated loci, genome completeness, comparative genomics
- MeSH terms
- Animals, Chromosomes, Human, Humans, Karyotyping, Phenotype, Primates, Species Specificity, Hominidae, Genome, Human, Evolution, Molecular, Genomics, Genetic Speciation, Comparative Genomic Hybridization
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