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Race in a genome: Long read sequencing, ethnicity-specific reference genomes and the shifting horizon of race

Kowal, Emma and Llamas, Bastien 2019, Race in a genome: Long read sequencing, ethnicity-specific reference genomes and the shifting horizon of race, Journal of Anthropological Sciences, vol. 97, pp. 91-106, doi: 10.4436/jass.97004.

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Title Race in a genome: Long read sequencing, ethnicity-specific reference genomes and the shifting horizon of race
Author(s) Kowal, EmmaORCID iD for Kowal, Emma orcid.org/0000-0003-3866-3224
Llamas, Bastien
Journal name Journal of Anthropological Sciences
Volume number 97
Start page 91
End page 106
Total pages 16
Publisher Istituto Italiano di Antropologia
Place of publication Rome, Italy
Publication date 2019
ISSN 1827-4765
Keyword(s) Genomics
Sequencing
De novo assembly
Ethnicity
Race
Science & Technology
Life Sciences & Biomedicine
Anthropology
STRUCTURAL VARIATION
ALZHEIMERS-DISEASE
VARIANTS
MICRODELETIONS
SOVEREIGNTY
DELETIONS
ANCESTRY
COMMON
RISK
1ST
Summary The sequencing of the human genome at the turn of the 21st century was hailed as revealing the overwhelming genetic similarity of human groups. Scholars of genomics have critiqued the subsequent persistence of race-based genetic science, but were reassured that the wide availability of gene sequencing would end the use of race as a proxy for genetic difference. Once an individual’s whole gene sequence could be read, they hoped, their ethnoracial classification would become redundant. At the same time, genome science was recognising that the differences between human genomes went beyond the genome sequence to the structure of the genome itself. ‘Structural variation’ between genomes, including insertions, deletions, translocations, inversions, and copy number variations, mean that the ‘universal’ reference genome used for genome sequencing is not so universal. As conventional, ‘short-read’ sequencing wrongly assumes that all genomes have the same structure, significant genetic variation can be missed. This paper examines the twin phenomena that have been posed as a solution to the biases of short-read sequencing: ‘long-read’ sequencing and ‘ethnicity-specific reference genomes’. Long-read sequencing is a method of generating a genome sequence that can be assembled de novo rather than relying on the reference genome. In recent years, a number of countries including China, Korea, and Denmark have used long-read sequencing and de novo assembly to develop ‘national’ reference genomes. Our analysis of one ethnicity-specific reference genome project, the Korean Reference Genome (KOREF), finds that it unduly emphasises the importance of population structural variation, framed in nationalist terms, and discounts the importance of individual structural variation. We argue that the intellectual labour required to make a Korean reference genome a coherent concept works to extend the horizon of race, prolonging the temporality of the ‘meantime’ in which race remains a seemingly valid concept in genomic science.
Language eng
DOI 10.4436/jass.97004
Indigenous content off
HERDC Research category C1 Refereed article in a scholarly journal
Copyright notice ©2019, Istituto Italiano di Antropologia
Free to Read? Yes
Use Rights Creative Commons Attribution non-commercial licence
Persistent URL http://hdl.handle.net/10536/DRO/DU:30132043

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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.