2023年经济学人 人类基因组与变异(2)（在线收听）

    In an age of home gene-testing kits, powered by falls in the cost of sequencing, 47 genomes may not sound that impressive.

    在一个家庭基因检测工具盛行的时代，由于测序成本的下降，47个基因组听起来可能并不那么令人印象深刻。

    But existing sequencing technologies produce incomplete results.

    但是现有的测序技术产生的结果并不完整。

    They rely on reading short snippets of DNA, and do not deal well with the long, repetitive regions that dot the genome.

    它们依赖于读取DNA的短片段，而不能很好地处理基因组上长而重复的区域。

    As Evan Eichler, a geneticist at the University of Washington, told a press conference: “There are complex forms of genetic variation where we know the existing technology doesn’t do a good job…it misses about two-thirds of those.”

    正如华盛顿大学的遗传学家埃文·艾希勒在一次新闻发布会上所说的那样:“我们知道，现有技术无法很好地研究复杂形式的遗传变异……它遗漏了大约三分之二的变异。”

    The Pangenome Project uses newer, more accurate methods.

    泛基因组计划使用更新、更精确的方法。

    That allows researchers to spot variants that might otherwise be missed, and to glean a better understanding of how, exactly, mutations arise.

    这使得研究人员能够发现可能被遗漏的变异，并更好地了解突变究竟是如何产生的。

    The new genomes, then, represent a big improvement on the status quo.

    因此，新的基因组代表着对现状的巨大改进。

    But gaps remain.

    但差距依然存在。

    All the genomes were drawn from material donated to the 1,000 Genomes Project, a collection of anonymised samples which began in 2008.

    所有的基因组都是从捐赠给1000基因组计划的材料中提取的，该计划于2008年开始收集匿名样本。

    It suffers from a shortage of donations from the Pacific islands and the Middle East.

    太平洋岛国和中东地区的捐献不足，使得该组织陷入困境。

    The researchers plan to fix that.

    研究人员计划解决这个问题。

    But maximising diversity is unlikely to mean sampling every part of the world equally.

    但最大限度地提高多样性不太可能意味着对世界各地一视同仁。

    Most human genetic diversity is found within Africa, the species’ ancestral homeland.

    大多数人类基因多样性都是在非洲发现的，那里是人类祖先的家园。

    (People in the rest of the world are descended from a relatively small band who migrated outwards between 50,000 and 70,000 years ago.)(世界上其他地方的人都是在5万到7万年前向外迁移的一小群人的后裔。)The researchers do not intend to catalogue every genetic variation there is.

    研究人员并不打算对所有的基因变异进行分类。

    That would be a Sisyphean task: as Tobias Marschall, a computational geneticist at Heinrich Heine University, noted, every baby is born with dozens of mutations possessed by neither of its parents.

    这将是一项做不完的任务:正如海因里希·海涅大学的计算遗传学家托比亚斯·马歇尔所指出的那样，每个婴儿出生时都带有父母双方都没有的数十种突变。

    Benedict Paten, a geneticist at the University of California, Santa Cruz, and one of the authors of this week’s clutch of papers, says the aim instead is to reach 350 high-quality genomes.

    加州大学圣克鲁兹分校的遗传学家本尼迪克特·帕滕是本周一系列论文的作者之一，他说，他们的目标是获得350个高质量的基因组。

    That should allow the researchers to capture the vast majority of the genetic variation that is thought to be out there.

    这将使研究人员能够捕捉到据说现存的绝大多数遗传变异。

    That will give humanity a much more representative picture of one of its favourite research subjects—itself.

    这将使人类对其最喜欢的研究对象之一——自身——有一个更具代表性的了解。