Scientists Release New Accounting of Human Genome

Scientists recently released a new accounting¹ of the human genome. The research effort included information from people from around the world and could help ongoing² efforts to identify genetic³ causes of diseases.

Background

A genome is an organism's genetic map and contains the information needed for development and growth. Each person's genome is individual, differing only from all others by about 0.4 percent on average.

Scientists have made big advances in understanding the human genome in the past twenty years.

In 2003, researchers announced the first genome sequence that accounted for over 90 percent of the complete human genome. It included information from about 20 people, but 70 percent of the blood donated for the research came from one individual of mixed European and African ancestry⁴.

The first complete human genome, based on one European person, was published last year.

Human Pangenome Project

The Human Pangenome Project builds upon this body of work.

A pangenome is a collection of diverse genomes. Scientists describe it as a rainbow of genomes, compared with one line representing the older, single reference genome.

The collection is designed to represent the genetic diversity of the human species.

By comparing the "genomes we can then build a map of not just one individual, but a whole population of variation," said Benedict Paten of the University of California, Santa Cruz. Paten was the senior writer of the main research paper that reported the findings in Nature.

The pangenome contains material from 24 people of African ancestry, 16 from the Americas and the Caribbean, six from Asia and one from Europe.

The group leading the research is part of the Human Genome Reference Program, which is financed by an arm of the U.S. National Institutes of Health.

Implications

Our species, Homo sapiens, developed in Africa roughly 300,000 years ago and later spread worldwide.

"Human ancestry is incredibly complex, and we're all related to each other through our common history," said Ira Hall, director of the Yale Center for Genomic Health and one of the research leaders. Hall added, "And so by sampling broadly across the genetic tree of humanity, it benefits everybody."

The new genome research could deepen understanding about how genetic variation is linked to health and disease. It could also improve genetic testing and guide drug discovery.

Candice Hirsch of the University of Minnesota was not involved in the research but has closely followed the effort. She said she expects many discoveries to flow from it. Until now, "we really have only been able to scratch the surface of understanding the genetics that underlies⁵ disease," she added.

It may take a while for patients to see benefits from the research. But scientists said new findings should help make genetic testing more exact and possibly lead to drug discoveries.

The research team is in the process of adding to the collection of reference genomes. The group aims to have sequences from 350 people by the middle of next year. Scientists are also hoping to work more with international partners, including those centered on Indigenous⁶ populations.

"We're in it for the long game," Paten said.

Words in This Story

genome – n. all the genetic information of an organism

sequence – n. the order in which things happen

rainbow – n. a curved line of different colors that sometimes appears in the sky when the sun shines through rain

sample – v. to test, study, or question (a group of people or things taken from a larger group) to get information

benefit – v. to be useful or helpful to (someone or something)

scratch the surface – expression to learn about only a small part of something

1 accounting   

n.会计，会计学，借贷对照表

参考例句：

• A job fell vacant in the accounting department.财会部出现了一个空缺。
• There's an accounting error in this entry.这笔账目里有差错。

2 ongoing   

adj.进行中的，前进的

参考例句：

• The problem is ongoing.这个问题尚未解决。
• The issues raised in the report relate directly to Age Concern's ongoing work in this area.报告中提出的问题与“关心老人”组织在这方面正在做的工作有直接的关系。

3 genetic   

adj.遗传的，遗传学的

参考例句：

• It's very difficult to treat genetic diseases.遗传性疾病治疗起来很困难。
• Each daughter cell can receive a full complement of the genetic information.每个子细胞可以收到遗传信息的一个完全补偿物。

4 ancestry   

n.祖先，家世

参考例句：

• Their ancestry settled the land in 1856.他们的祖辈1856年在这块土地上定居下来。
• He is an American of French ancestry.他是法国血统的美国人。

5 underlies   

v.位于或存在于（某物）之下( underlie的第三人称单数 )；构成…的基础（或起因），引起

参考例句：

• I think a lack of confidence underlies his manner. 我认为他表现出的态度是因为他缺乏信心。 来自《简明英汉词典》
• Try to figure out what feeling underlies your anger. 努力找出你的愤怒之下潜藏的情感。 来自辞典例句

6 indigenous   

adj.土产的，土生土长的，本地的

参考例句：

• Each country has its own indigenous cultural tradition.每个国家都有自己本土的文化传统。
• Indians were the indigenous inhabitants of America.印第安人是美洲的土著居民。