He completed a seven-year project to decipher the human genome

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 USA, Great Britain, Italy, Peru, Kenya, Nigeria, China and Japan. Deciphering the complete human genome - no easy task, as

it contains 20-25 thousand. of active genes. However, it is a very small fraction of all 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 relevant to all 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 which variations is each human gene - and it can help to understand some of the genetic disorder he says. Scientists have managed to understand,

which is a genetic variation responsible for the occurrence of disease of the heart muscle (myocardium), chronic inflammations of the gastro-intestinal tract, sickle-cell anemia (disorders of hemoglobin structure) or Gaucher disease - a hereditary disease that causes accumulation of complex fats in many tissues, including the spleen, liver, kidneys, lungs, brain and bone marrow.

Data obtained as a result of the work available on the website of the project. In the night from Tuesday to Wednesday in the journal Nature published two articles of the latest survey data, which were obtained in the course of work. A correspondent of the Department of Science "Gazety.Ru" was able to talk with the three scientists who were directly involved in the Human Genome: Paul Flichekom (one of the leading researchers in 1000 Genomes Project and a leading researcher at the European Molecular-Physical Laboratory), Gonzalo Abekasisom (Professor, University of Michigan ) and Adam Otho (New York medical College. Albert Einstein) and talk with them about future plans and opportunities for practical application of the seven-year performance.

to decode the complete genome of thousands of people: - In 2008, when the project began, the goal was set before the scientists. In October 2012, the journal Nature announced that over 1092 decoding genomes. To date - the end of the project - you have 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, technology to implement genome sequencing, 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.

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

Paul Flichek: We are facing a new set of goals relating to both DNA sequencing and search the relationship between variations in different genes, occurrence of genetic diseases and other human characteristics. Completing the 1000 Genomes Project - this is really the culmination of the efforts that we began to take another 15 years ago and whose purpose was to create an open resource that contains information on human genes.

In the future we plan to expand 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 framework of 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 affect the phenotype of human.

• Is it possible to apply the information you practice now? Or is it still requires additional processing time?

Gonzalo Abekasis: information gathered is useful for researchers now - it helps scientists understand how each gene variation is which of these variations are responsible for the emergence of various diseases. However, until the moment when this knowledge lead to the development of new drugs, yet a certain time.

Adam Oton: The information is used actively, and not only by doctors, but in general everyone. If the researcher - in any field - want 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.

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

For example, a person from Asia have discovered a rare genetic disorder. But 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 must be sought in the changes of another gene. In addition, we have a better understanding of how different populations of humans migrated around the world.

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

Paul Flichek: The most important result of 1000 Genomes Rroject - is a catalog of human genes and variation analysis methods and tools that can be used for further sequencing of the human genome. This directory is completely free and is open source.

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

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

• And the last question: what do you feel now that the seven-year project in which you take 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.

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

Flichek Paul: I feel a little sad. Our project was a vivid demonstration of what modern technology can. The project is constantly growing and developing - together with the development of technology, and its completion is really means end of an era. Although, of course, the use of data obtained by decoding the DNA is just beginning, and it seems to me that the 1000 Genomes Project can be compared to a child who has yet to grow and grow.