基因组中的种族:长读测序,特定种族的参考基因组和种族的变化视野。

E. Kowal, B. Llamas
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引用次数: 2

摘要

在21世纪之交,人类基因组测序被誉为揭示了人类群体压倒性的遗传相似性。基因组学学者批评了随后持续存在的以种族为基础的基因科学,但他们确信,基因测序的广泛可用性将结束将种族作为遗传差异的代表。他们希望,一旦一个人的整个基因序列能够被读取,他们的种族分类就会变得多余。与此同时,基因组科学认识到,人类基因组之间的差异超出了基因组序列的范畴,还涉及到基因组本身的结构。基因组之间的“结构变异”,包括插入、缺失、易位、倒位和拷贝数变异,意味着用于基因组测序的“通用”参考基因组并不那么通用。由于传统的“短读”测序错误地假设所有基因组具有相同的结构,因此可能会遗漏重要的遗传变异。本文研究了作为解决短读测序偏差的两种现象:“长读”测序和“种族特异性参考基因组”。长读测序是一种产生基因组序列的方法,可以重新组装而不是依赖于参考基因组。近年来,包括中国、韩国和丹麦在内的许多国家已经使用长读测序和从头组装来开发“国家”参考基因组。我们对一个特定种族的参考基因组项目——韩国参考基因组(KOREF)的分析发现,该项目过分强调了以民族主义为框架的人口结构变异的重要性,而忽视了个体结构变异的重要性。我们认为,使韩国参考基因组成为一个连贯的概念所需的智力劳动可以扩展种族的视野,延长“同时”的短暂性,其中种族在基因组科学中仍然是一个看似有效的概念。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Race in a genome: long read sequencing, ethnicity-specific reference genomes and the shifting horizon of race.
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.
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