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科学家们终于完成人类基因组研究

Scientists Finish the Human Genome at Last

在人类基因组序列草案被大张旗鼓地公布20年后,一个由99名科学家组成的团队终于破译了整个基因组。他们填补了巨大的空白,纠正了旧版本中的一长串错误,让我们对我们的DNA有了新的认识。

Two decades after the draft sequence of the human genome was unveiled to great fanfare, a team of 99 scientists has finally deciphered the entire thing. They have filled in vast gaps and corrected a long list of errors in previous versions, giving us a new view of our DNA.

最近几周,该团队在网上发布了六篇论文,其中描述了全基因组。科学家们说,这些他们苦苦寻求才得到的数据,现在正在接受科学杂志的审查。这些数据将使科学家们更深入地了解DNA如何影响疾病的风险,以及细胞如何将其保持在整齐的染色体中,而不是分子纠结。

The consortium has posted six papers online in recent weeks in which they describe the full genome. These hard-sought data, now under review by scientific journals, will give scientists a deeper understanding of how DNA influences risks of disease, the scientists say, and how cells keep it in neatly organized chromosomes instead of molecular tangles.

例如,研究人员已经发现了100多个可能具有功能性的新基因,并确定了人与人之间数百万的基因变异。其中一些差异可能在疾病中发挥了作用。

For example, the researchers have uncovered more than 100 new genes that may be functional, and have identified millions of genetic variations between people. Some of those differences probably play a role in diseases.

没有参与这个项目的专家说,这将使科学家能够更详细地探索人类基因组。大块的基因组过去一直是空白的,现在被清楚地破译出来,于是科学家就可以开始认真地研究它们。

Experts who were not involved in the project said it will enable scientists to explore the human genome in much greater detail. Large chunks of the genome that had been simply blank are now deciphered so clearly that scientists can start studying them in earnest.

Read more at The New York Times

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