1000 Human Genomes Project: the third stage
Scientists shared the first results of the "1000 human genomes" projectRIA News
Scientists have publicly published the first results of a project to decipher more than 2 thousand human genomes, which should help researchers from various fields of life science, the press service of Baylor College of Medicine, USA (1000 Genomes Project releases pilot data) reports.
"Decoding the entire genetic diversity of the human population is a critical step for recognizing genetic changes in human DNA that are amenable to medical intervention," said Professor Richard Gibbs, involved in the project.
To date, scientists have managed to complete three pilot programs within the framework of the project, designed to identify the boundaries and possibilities of using various genome decoding techniques. Now geneticists can directly begin to decipher 2.5 thousand genomes of people around the world, representing 27 different populations.
"The goal of our project is simple – to understand genetic variations of the human genome as deeply as possible and their contribution to various human diseases," said Eric Green, director of the National Institute for Human Genome Research in the United States, which funds a significant part of the work.
Scientists believe that the successful completion of this project will make it possible to identify all the rarest genetic variations in the DNA of people, which, according to modern science, are the main cause of the manifestation of certain diseases that are inherited and poorly treatable.
As part of one of the pilot programs, scientists decoded 700 genomes of various people in the part of them that is responsible for the synthesis of protein molecules in the cells of the body. This region makes up approximately 2% of the entire DNA. The results of the program will allow scientists to obtain the most detailed data on the variability of the coding region of human DNA.
Another program was designed to decode only six genomes of people who are closely related using various techniques. This made it possible to obtain very reliable data with a large margin of reliability of DNA decoding – each genome was "read" 20 – 60 times, which also allowed the authors of the study to assess the strengths and weaknesses of a particular method of decoding genomes.
The third of the pilot programs was aimed at a less detailed decoding of the genomes of 179 people, which will allow us to assess the degree of genetic difference between them.
All the data obtained within the framework of three dense programs is available to anyone on the Internet on the project website.
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