It ended a seven-year project to decipher the human genome – BBC

1000 Genomes Project – a massive project, launched in January 2008, the original purpose of which was the complete sequencing (decoding) genomes of thousands of people – members of different races and nationalities. The work was attended by teams of researchers from the United States, Great Britain, Italy, Peru, Kenya, Nigeria, China and Japan. Deciphering the complete human genome – a difficult task, as

it contains 20-25 thousand. active genes. However, this represents a very small part of all the genes – the rest belong to the so-called “junk DNA” that is, do not code for any protein. But given the “junk DNA” of the human genome volume reaches about 3 billion base pairs.

The large-scale work carried out by scientists, is directly related to all the people living on the planet. During the scientists were able to decipher the genomes of 2504 people, representing 26 different populations. The researchers were able to determine exactly what each has variations of a human gene – and it can help to understand some of the genetic disorder he says. Scientists have managed to understand,

exactly which genetic variations are responsible for the emergence of diseases of the heart muscle (myocardium), chronic inflammation of the gastrointestinal tract, sickle-cell anemia (violations of the structure of hemoglobin) or disease Gaucher – a hereditary disease that results in the accumulation of complex fat in many tissues, including the spleen, liver, kidneys, lungs, brain and bone marrow.

The data obtained as a result of work, available on the website of the project . In the night from Tuesday to Wednesday in the journal Nature out two articles , representing the latest survey data, which were obtained in the course of work. Department of Science Correspondent “Gazety.Ru” managed to communicate with the three scientists who were directly involved in the Human Genome: Paul Flichekom (one of the leading researchers in 1000 Genomes Project and senior research fellow at the European molecular physics laboratory), Gonzalo Abekasisom (professor at the University of Michigan ) and Adam Otho (New York Medical College. Albert Einstein) and talk to them about the future plans and possibilities of practical application of the results of seven years of work.

– In 2008, when the project began, the scientists set a goal: to decode the complete genome of thousands of people. In October 2012 the journal Nature announced that over 1092 decoding genomes. To date – the end of the project – you managed to sequence the genome in 2504. Tell me, how did you get so significantly exceed the plan?

Paul Flichek: We have managed to sequence as many samples, because in recent years the technology to implement genome sequencing, We received a significant development. That is why we managed to get about 25 times more data than was originally stated.

Gonzalo Abekasis: Do not forget about the cost of such an analysis. In 2008, a complete decoding of the human genome cost about $ 100 thousand., But now this amount is less than $ 2 thousand.

– September 30, it was announced that the final stage of the project is completed. Can you talk about the full completion of the work, or you’re going to go ahead and set new goals?

Paul Flichek: We are faced with many new objectives relating to both DNA sequencing and searching for interconnections between the variations of different genes causing genetic diseases, and other characteristics of the person. Completing the 1000 Genomes Project – this is really the culmination of the efforts that we started to take some 15 years ago and whose purpose was to create an open resource containing information on human genes.

In the future, we we plan to broaden the base of our research and bring it to the people from a larger number of populations around the world – in Africa, Asia and the Middle East remain the population not involved in the study. Now, this work will be carried out within the project International Genome Sample Resource .

Gonzalo Abekasis: In addition, in the future, we plan to focus on how each gene variations affect the course of a particular disease. To do this, examine the largest possible number of current and treatment of such diseases.

Adam Hotton: And we’re going to see how genetic variations influence the phenotype of the person.

– Is it possible to apply the information you have to practice now? Or is it still needed more time to process the data?

Gonzalo Abekasis: The information we collect is useful for researchers now – it helps scientists understand how much variation is each gene which of these variations are responsible for the occurrence of various diseases. However, until such time as this knowledge will lead to the development of new drugs, has held a certain time.

Adam Hotton: Information is widely used, not only by doctors, but in general all interested persons . If the researcher – in any field – wants to find out what functions are performed by a gene as it is distributed among the population of the globe, or looks like some portion of the genome, it can easily get this information.

Paul Flichek: I think the main practical benefits of our data – is that they help to map the spread of a gene on the planet.

Suppose a man comes from Asia have discovered a rare genetic disorder. But the data from our project say that the variation of a gene (causing disease) is only in the DNA of Africans. This would mean that the roots of the disease to be found in the changes of another gene. In addition, we have a better understanding of how different human populations migrated around the world.

– If you were asked to describe the results of seven years of work in one or two sentences, what would you say?

Paul Flichek: The most important result in 1000 Genomes Rroject – is a catalog of human genes and variations in methods of analysis and tools that can be used for further sequencing of the human genome. This directory is completely free and is publicly available.

Gonzalo Abekasis: We now have a directory, which presents the different versions of each of the DNA sequence, which means that each gene, and use which we can determine which regions of the world distributed each version. We can use this information to reduce the time and costs required to decode the genome of other people.

Adam Hotton: 1000 Genomes Project thus significantly improve our understanding of how variations in the human genes are common in the world.

– And the last question: do you feel now that the seven-year project in which you have taken a direct part completed?

Gonzalo Abekasis: I feel that it is time to take the next challenge: to apply what we have learned into practice and begin to develop treatments for genetic diseases.

Adam Otto: The project became the basis for further work: they all want to know that variations of genes can tell us about different diseases. The next few years promise to be very busy.

Paul Flichek: I am a little sad. Our project was a great demonstration of what can modern technology. The project is constantly growing and developing – together with the development of technology, and its completion does mean the end of an era. Although, of course, the use of data obtained by decoding the DNA is just beginning, and I think that the 1000 Genomes Project can be compared to a child who has yet to grow and grow.