Incorrect standard

The reference human genome is 70% based on the DNA of one African American

Sergey Kolenov, Hi-tech+

Now scientists are calling for the creation of reference genomes for each nation and racial group. They should cover sections of DNA that are missing from the reference genome obtained during the Human Genome project. A whole library of genomes will allow you to learn more about the health and origin of various groups of the Earth's population.

The reference genome, the result of the Human Genome project, serves as a reference for DNA comparison and is used in a variety of medical and biological studies. However, it has a huge drawback: as Inverse reports, the reference genome is 70% based on the genetic material of one person, an African-American, known as RPCI-11. Considering that 7.7 billion people live on Earth today, one standard is clearly not enough for everyone.

To assess how accurate the reference genome is, scientists from Johns Hopkins University (USA) studied the genomes of 910 people of pan-African origin from 20 countries. In the DNA of these people, the team found almost 300 million base pairs that are missing from the reference sample. The analysis showed that these sites carry coding sequences whose functions have not yet been established.

Article by Sherman et al. An assembly of a pan-genome from deep sequencing of 910 humans of African descent is published in the journal Nature Genetics – VM.

These fragments, which are missing in the reference genome, remain "invisible" to geneticists. By neglecting this material, we will inevitably miss key information about the health and history of entire populations, the researchers say. Perhaps there are many other DNA sites unknown to science that are characteristic of other peoples.

According to scientists, instead of striving to create a single genetic standard, it is necessary to have several reference genomes – one for each national and racial group of the population.

Similar projects already exist – for example, Denmark intends to assemble a reference Danish genome from the genetic material of 150 people. A similar project exists in South Korea, but again only one person participates in it. Unfortunately, none of these attempts has achieved the fame and influence of GRCh38, the current version of the reference genome. 

The authors of the article have committed themselves to create several additional reference genomes within 1-2 years. In addition, they plan to create a library of similar samples so that everyone can get an idea of their genetic material.

Thanks to the reduction in sequencing prices, the complete decoding of the genome has become much more accessible. Already today, Veritas offers this procedure to everyone at a price of $ 999. During a recent promotion, its value dropped to $199. The company hopes that within 3-5 years, full sequencing will be available at a price of $99.

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