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

被引:0
|
作者
Kowal, Emma [1 ]
Llamas, Bastien [2 ]
机构
[1] Deakin Univ, Alfred Deakin Inst Citizenship & Globalisat, 221 Burwood Hwy, Burwood, Vic 3125, Australia
[2] Univ Adelaide, Australian Ctr Ancient DNA, Sch Biol Sci, Environm Inst, Adelaide, SA 5005, Australia
基金
澳大利亚研究理事会;
关键词
Genomics; Sequencing; De novo assembly; Ethnicity; Race; STRUCTURAL VARIATION; ALZHEIMERS-DISEASE; VARIANTS; MICRODELETIONS; SOVEREIGNTY; DELETIONS; ANCESTRY; COMMON; RISK; 1ST;
D O I
10.4436/jass.97004
中图分类号
Q98 [人类学];
学科分类号
030303 ;
摘要
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 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.
引用
收藏
页码:91 / 106
页数:16
相关论文
共 50 条
  • [1] Adverse Childhood Experiences, Commitment Offense, and Race/Ethnicity: Are the Effects Crime-, Race-, and Ethnicity-Specific?
    DeLisi, Matt
    Alcala, Justin
    Kusow, Abdi
    Hochstetler, Andy
    Heirigs, Mark H.
    Caudill, Jonathan W.
    Trulson, Chad R.
    Baglivio, Michael T.
    [J]. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2017, 14 (03):
  • [2] Race/Ethnicity and Measures of Violence at the Macro Level: Is Disadvantage Invariant Across Race-/Ethnicity-Specific Arrest, Victimization, and Offending?
    Painter-Davis, Noah
    Harris, Casey T.
    [J]. RACE AND JUSTICE, 2021, 11 (04): : 407 - 433
  • [3] Race/ethnicity-specific mortality and complication rates after knee replacement.
    Ibrahim, S
    Stone, R
    Han, X
    Khuri, S
    Henderson, W
    Kwoh, K
    [J]. JOURNAL OF GENERAL INTERNAL MEDICINE, 2004, 19 : 201 - 202
  • [4] Marked Variations in Colon Cancer Epidemiology: Sex-specific and Race/Ethnicity-specific Disparities
    Wong, Robert John
    [J]. GASTROENTEROLOGY RESEARCH, 2009, 2 (05) : 268 - 276
  • [5] Race/Ethnicity-Specific Disparities in the Receipt of Screening for Esophageal Varices Among Patients with Cirrhosis
    Tavakoli, Hesam
    Robinson, Ann
    Liu, Benny
    Bhuket, Taft
    Cheung, Ramsey
    Wong, Robert
    [J]. AMERICAN JOURNAL OF GASTROENTEROLOGY, 2016, 111 : S389 - S389
  • [6] Hardware Acceleration of Long Read Pairwise Overlapping in Genome Sequencing: A Race Between FPGA and GPU
    Guo, Licheng
    Lau, Jason
    Ruan, Zhenyuan
    Wei, Peng
    Cong, Jason
    [J]. 2019 27TH IEEE ANNUAL INTERNATIONAL SYMPOSIUM ON FIELD-PROGRAMMABLE CUSTOM COMPUTING MACHINES (FCCM), 2019, : 127 - 135
  • [7] Race/Ethnicity-Specific Disparities in the Severity of Disease at Presentation Among Adults with Ulcerative Colitis
    Castaneda, Garland
    Liu, Benny
    Torres, Sharon
    Bhuket, Taft
    Wong, Robert
    [J]. AMERICAN JOURNAL OF GASTROENTEROLOGY, 2016, 111 : S304 - S304
  • [8] RACE-SPECIFIC AND ETHNICITY-SPECIFIC CHARACTERISTICS OF PARTICIPANTS LOST TO FOLLOW-UP IN A TELEPHONE COHORT
    PSATY, BM
    CHEADLE, A
    KOEPSELL, TD
    DIEHR, P
    WICKIZER, T
    CURRY, S
    VONKORFF, M
    PERRIN, EB
    PEARSON, DC
    WAGNER, EH
    [J]. AMERICAN JOURNAL OF EPIDEMIOLOGY, 1994, 140 (02) : 161 - 171
  • [9] Race/Ethnicity-Specific Associations of Urinary Phthalates with Childhood Body Mass in a Nationally Representative Sample
    Trasande, Leonardo
    Attina, Teresa M.
    Sathyanarayana, Sheela
    Spanier, Adam J.
    Blustein, Jan
    [J]. ENVIRONMENTAL HEALTH PERSPECTIVES, 2013, 121 (04) : 501 - 506
  • [10] The Sex and Race/Ethnicity-Specific Relationships of Abdominal Fat Distribution and Anthropometric Indices in US Adults
    Xu, Furong
    Earp, Jacob E.
    Adami, Alessandra
    Lofgren, Ingrid E.
    Delmonico, Matthew J.
    Greene, Geoffrey W.
    Riebe, Deborah
    [J]. INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, 2022, 19 (23)