Researchers map the entire genome for the first time – NRK Trøndelag

CRISPR og endring av DNA

In 2003, he wrote the history. At that time, researchers were able to map 92 percent for the first time genome for us.

But for nearly two decades, they struggled to decipher the last part.

Until now.

In a new study published in March of this year, a total of 100 researchers managed to manage the long-awaited: For the first time, a map of women’s total genetic material has been made.

Completing this job is like putting on a new pair of glasses. Now that we can see it all, we’re one step closer to understanding what it all means, says Adam Philip. He works for the National Human Genome Research Center in the United States.

The study was published in Science.

complex puzzle

The human genome consists of at least 3 billion nucleotides and about 20000 The general. It took nearly 30 years to complete the monumental work.

Evan Eichler believes that complete sequencing will make it possible to understand complex genetic variation, which is the basis of both disease and evolution.

Photo: Ron Wurzer/AP Images for HHMI

When we now have this complete information, we will be able to better understand how we are made as an individual organism. And not least how we stand out, not only from other people, but also from other species.

This is what Evan Eichler says CNN. He is one of the researchers on the project.

We are all born with the same genes, but small differences mean we have different characteristics.

A single gene can contain tens of thousands of letters, which are codes for DNA. This code consists of the letters ATCG in many different variants.

The human genome consists of more than six billion individual letters with DNA.

The new search now offers an additional 400 million characters.

In practice, this could mean we’ll get a lot of new answers about our biology, the researchers explain. At best, it can shed new light on how diseases are treated, prevented, and treated.

Almost complete recipe

Atle M. Bones is Professor of Biology at NTNU in Trondheim. He says the past 30 years show the complexity of this work. Bone study calls a bewitching piece of work.

I believe that these data, among other things, will provide opportunities for further links between phenotype and genotype. This means that we can associate traits and diseases with genetic diversity.

The professor explains that, in the long run, we’re talking about treatments that are very personal and adapted for you and me.

– Now we have almost the complete genetic recipe for a human being.

She is still young But. The Y chromosome, the male chromosome, was not identified in the new study. This is because the researchers used a special type of cell. This type of cell contains an X chromosome, but not a Y chromosome.

The Y chromosome is our smallest chromosome. It contains only 0.4 percent of human DNA – about 80 genes. In contrast to the 1000 genes of the X chromosome.

Like a cookbook with missing pages

To read the genome, the researchers first cut all the DNA into pieces. Then the sequencer machines read the individual characters on each chip.

Bones compare our genome to a cookbook. So far, it has about all ten pages in this book.

These blank pages, which I was now able to fill, contain important information, says the biology professor.


The new pages explain a lot about how to mix recipes together, among other things How are sequences exchanged between chromosomes.

Incorrect mixtures are associated, among other things, with serious genetic diseases.

The new findings give us insight into why some chromosomes have more problems than others. For example, is NIPT . tests Pregnant women also use the analysis of three of these chromosomal regions or chromosomal defects.

This is how you can find out, among other things, whether you have an increased risk of having a child with Down syndrome.

Next 10 years

It is still very expensive and time consuming for all people to obtain their entire genome sequence.

But new technology is making the process increasingly affordable, according to the researchers.

Adam Felipe hopes much will happen over the next 10 years, by which time the genomes of individuals can be sequenced in the form of routine medical testing.

The goal is for this test to cost less than $1,000, and that’s something the researchers on the project will continue to work on to administer and implement.

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Dalila Awolowo

Dalila Awolowo

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