Scanning the human genome for “signatures” of positive selection: Transformative opportunities and ethical obligations

The relationship history of evolutionary anthropology and genetics is complex. At best, genetics is a beautifully integrative part of the discipline. Yet this integration has also been fraught, with punctuated, disruptive challenges to dogma, periodic reluctance by some members of the field to embrace results from analyses of genetic data, and occasional over-assertions of genetic definitiveness by geneticists. At worst, evolutionary genetics has been a tool for reinforcing racism and colonialism. While a number of genetics/genomics papers have disproportionately impacted evolutionary anthropology, here we highlight the 2002 presentation of an elegantly powerful approach for identifying ‘signatures’ of past positive selection from haplotype-based patterns of genetic variation. Together with technological advances in genotyping methods, this paper transformed our field by facilitating genome-wide ‘scans’ for signatures of past positive selection in human populations. This approach helped researchers test longstanding evolutionary anthropology hypotheses while simultaneously providing opportunities to develop entirely new ones. Genome-wide scans for signatures of positive selection have since been conducted in diverse worldwide populations, with striking findings of local adaptation and convergent evolution. Yet there are ethical considerations with respect to the ubiquity of these studies and the cross-application of the genome-wide scan approach to existing datasets, which we also discuss.

This is the peer reviewed version of the following article: Margarita Hernandez, George H. Perry, "Scanning the human genome for 'signatures' of positive selection: Transformative opportunities and ethical obligations," Evolutionary Anthropology, Volume 30, Issue 2, pp. 113-121, DOI: 10.1002/evan.21893, which has been published in final form at https://doi.org/10.1002/evan.21893. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.

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Work Title Scanning the human genome for “signatures” of positive selection: Transformative opportunities and ethical obligations
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Open Access
Creators
  1. Margarita Hernandez
  2. George H. Perry
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Work Type Article
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  1. Evolutionary Anthropology
Publication Date March 31, 2021
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  1. https://doi.org/10.1002/evan.21893
Deposited July 29, 2021

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    Work Title
    • Scanning the human genome for “signatures” of positive selection
    • Scanning the human genome for “signatures” of positive selection: Transformative opportunities and ethical obligations
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    • 10.1002/evan.21893
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    • George H. Perry