Saturday, November 3, 2012

Human genetic catalog seeks the origin of disease

In 2003, the first ever complete sequence of the human genome was published. This marked a huge milestone in biology and has lead to lots of post-hoc analysis to discover clues about our evolution, genes and their function and other bits of our DNA. Nowadays, it is a lot faster and cheaper to unravel the entire sequence of a person's DNA, but the costs are still too high to allow large-scale sequencing. Nevertheless, we have accumulated a rather large collection of human genomes, and a group of researchers has just started a project to use this catalogue in the search of the origin of disease.

According to the group of researchers, headed by the Washington University in St. Louis, the collection of genetic maps provides a large set of data that can be used for the search of rare variants in the genome that could potentially be a cause of disease. Genetic variants can also be studied across a range of ethnic groups  in order to find out how race contributes to the cause or prevention of disease. Currently, the catalogue already contains information on 14 ethnic groups, and the scientists hope that it will eventually contain data on more than 2500 individuals.

This so-called roadmap of disease can be accessed online, which means the scientists have easy access and the analysis can be largely computerized. However, the data has also been made available to the public. In total, the database contains over 180GB of data. The collection contains over 38 million variations individual DNA building blocks, and there are about 1,4 million short strings of DNA that vary between human beings: in some people they are missing, while in some people they are multiple repetitions of the same string in the genome. There are also 140.000 large strings of these so-called deletions or insertions.

The main purpose of the research is to find out how these variations contribute to the origin of disease. Differences in the DNA blueprint, even small ones, can have detrimental effects on the function of the corresponding proteins, that are produced from genetic information. In addition, the catalogue of human genomes may tell us something about our evolution: our DNA contains clues about our geographical origins, and many scientists are using genetic information to find clues on how life progressed over the course of millions of years. In many ways, it seems that a collection of genomes will help us forward.

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