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Cited by 388

The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.

Patterns of Human Genetic Diversity: Implications for Human Evolutionary History and Disease

Tishkoff, Sarah A., Verrelli, Brian C.·2003·Annual Review of Genomics and Human Genetics

Abstract

Since the completion of the human genome sequencing project, the discovery and characterization of human genetic variation is a principal focus for future research. Comparative studies across ethnically diverse human populations and across human and nonhuman primate species is important for reconstructing human evolutionary history and for understanding the genetic basis of human disease. In this review, we summarize data on patterns of human genetic diversity and the evolutionary forces (mutation, genetic drift, migration, and selection) that have shaped these patterns of variation across both human populations and the genome. African population samples typically have higher levels of genetic diversity, a complex population substructure, and low levels of linkage disequilibrium (LD) relative to non-African populations. We discuss these differences and their implications for mapping disease genes and for understanding how population and genomic diversity have been important in the evolution, differentiation, and adaptation of humans.

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Crossref · 10.1146/annurev.genom.4.070802.110226

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Metadata

Authors
Tishkoff, S. A., & Verrelli, B. C.
Venue
Annual Review of Genomics and Human Genetics
Published
2003-09
Volume
4
Issue
1
Pages
293-340
ISSN
  • 1527-8204 (ISSN-L)
  • 1545-293X
OpenAlex
W2104670802
Cited by
388
References
17
FWCI
1.75
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Patterns of Human Genetic Diversity: Implications for Human Evolutionary History and Disease. https://app.cochat.ai/papers/10.1146/annurev.genom.4.070802.110226
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Tishkoff, S. A., & Verrelli, B. C. (2003). Patterns of Human Genetic Diversity: Implications for Human Evolutionary History and Disease. Annual Review of Genomics and Human Genetics. https://doi.org/10.1146/annurev.genom.4.070802.110226

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.