科学家首次完成了人类完整基因测序

Scientists sequence the complete human genome for the first time

In 2003, the Human Genome Project made history when it sequenced 92% of the human genome. But for nearly two decades since, scientists have struggled to decipher the remaining 8%. Now, a team of nearly 100 scientists from the Telomere-to-Telomere (T2T) Consortium has unveiled the complete human genome -- the first time it's been sequenced in its entirety, the researchers say.

2003年人类基因组创造了历史，完成了人类基因92%的测序。但自从以后，将近20年，科学家们都在竭力破译剩余的8%.如今，来次 Telomere-to-Telomere (T2T) Consortium的将近100名科学家首次揭示了人类完整基因序列。

"Having this complete information will allow us to better understand how we form as an individual organism and how we vary not just between other humans but other species," Evan Eichler, a Howard Hughes Medical Institute investigator at the University of Washington and the research leader, said Thursday.

有了这些完整的基因信息，将允许我们更好地理解：我们是如何形成一个个体生物，如何有别于其他人和其他物种。

The new research introduces 400 million letters to the previously sequenced DNA -- an entire chromosome's worth. The full genome will allow scientists to analyze how DNA differs between people and whether these genetic variations play a role in disease.

全部的基因将允许科学家分析人与人之间的DNA如何不同，以及这些基因变异在疾病方面是否起作用。

The research, published in the journal Science on Thursday, was previously in preprint, allowing other teams to use the sequence in their own studies.

该研究周三在《自然》杂志预印版出版，允许其他团队使用本研究中的基因序列。

Until now, it was unclear what these unknown genes coded.

但到目前为止，这些未名的基因密码仍不清楚。

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For now, it's still too costly and time-consuming for everyone to sequence their own genome. But research is underway that uses this genome to identify whether certain genetic differences are linked with specific cancers. Knowing the genetic variations could also allow doctors to better tailor treatments, said Michael Schatz, another researcher on the team and a professor of computer science and biology at Johns Hopkins University.

目前，个人的基因测序仍然费时费力。但研究人员正在用这些基因来识别基因变异和一些癌症的相关性。知道基因变异将使医生的治疗更有针对性。

Phillippy said he hopes that within the next 10 years, sequencing individuals' genomes can become a routine medical test that costs less than $1,000. His team continues to work toward that goal.

Phillippy 希望十年内，个人基因测序成为费用少于1000美元的常规医学检查。他的团队正在朝这一目前努力。

Charles Rotimi, scientific director of the National Human Genome Research Institute, said in a statement that this scientific achievement is "moving us closer to individualized medicine for all humanity." Rotimi was not involved in the research.

一位没有参加该项研究的科学家说：这项成果将使我们更接近人类的个性化医疗。

详见： https://edition.cnn.com/2022/03/31/health/first-complete-human-genome-sequence/index.html

https://www.science.org/doi/10.1126/science.abj6987