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1000 genome project Genome of 2,500 people completely decoded
Every human is unique. But how do we differentiate genetically? What are our similarities? Which regions of the human genome play a role in the development of diseases? These questions could be answered soon. A project to sequence human genomes has now come to an end. The so-called 1000 Genome Project is officially completed. The data obtained could help to find answers to important questions.
The 1000 Genome Project is an international study that has sequenced genomes from about 2,500 people. This is to provide a detailed catalog of human genetic variations. The project is by far the largest collection of human genomes. The complete database will be made available to scientists worldwide free of charge, this should help to advance research in all areas. After 25 years of research, the 1000 Genome Project is now complete. The data sets are already in use and form the basis for further studies. The applications include the search for the genetic roots of human diseases. The data are also important for analyzes of population genetics.
The decoding of the genomes gives hope for new approaches for the explanation of diseases. (Image: Sergey Nivens / fotolia.com) 200 genes are not present in some people
An international research team examined the genetic material of 2,500 people. It was found that more than 200 genes in the human genome are unimportant for the functioning of our body. For the project people from four continents were examined. It was surprising that more than 200 genes are not present in some people at all. The most common genetic variants are widely distributed in the population. Rare variations are often limited to closely related groups.
New unknown mutation routes discovered
A team of several hundred researchers from the 1000 Genome project presented their findings in the journal "Nature". This showed that there must be unknown mutation paths. In addition, it was determined which regions of the genome have health effects or are even the cause of the development of diseases.
Starting points for new therapies
The goal of the 1000 Genome Project was to sequence approximately 2,500 human genomes. In other words, human genetic variations should be cataloged. With these results, the scientists hope to find the causes of diseases. In addition, new approaches to therapies could be developed based on the study.
26 populations from around the world were studied
For the comprehensive study, researchers examined the genomes of 26 populations from around the world. Many different population groups were included in the investigation. Among other things, the project analyzed genomes of ethnic groups such as the Han Chinese, Peruvians or the Tamils from Sri Lanka. The greatest variability researchers found in people of African origin. The humans had spread from Africa around the whole world. The sequence data of people of African descent are, according to experts, particularly valuable for science. EBLY Birney of the EMBL in Hinxton and Nicole Soranzo of the Wellcome Trust Sanger Institute in Hinxton wrote in a comment that the new findings allow a much wider view of genetic variations in humans.
Data today much more detailed than in 2012
In 2012, the researchers had already gained initial knowledge after the sequencing of more than 1,000 genomes. The studies are now based on significantly more genomes. As a result, the results are better, the data is much larger and more detailed. Bioinformatician Oliver Stegle, of the European Molecular Biology Laboratory (EMBL), is quoted by Focus Online as saying that it seems that structural variations often have functional consequences. It is now possible to provide researchers with clues as to what they must pay close attention to when trying to understand the genetic basis of a particular disease.
Differences in genetic variations usually only minimal.
The genetic variations sometimes differ in only one basic building block. Of the 88 million variations discovered, 85 million differed only one component at a time. In about 3.6 million cases, just small genomes had been added. Sometimes these were gone too. Larger deviations in the sections of the genome were very rare. Only in 60,000 cases could such be detected. However, it was found that the influence of these structural variations strongly influences the activity of genes and the formation of proteins. (As)