An advance in genome analysis could detect diseases faster

Diseases caused by genetic changes could be detected more easily through advanced software for badyzing the genome of DNA.

The development of genome badysis will facilitate the integration of genetic testing into health systems such as the UK's National Health Service, which supports approximately three million people affected by genetic diseases in the UK.

What can the new tool do?

Published in Nature Communications and funded by Wellcome and the European Union, research was conducted by teams from the University of Edinburgh and by the European Institute of Bioinformatics of the European Laboratory of Biology molecular (EMBL-EBI).

The new tool can detect specific genetic changes that cause disease in more than three billion DNA letters of the human genome.

To do this, you access a database containing clinical information on people with genetic diseases, to determine the changes in DNA known to cause disease.

The genome badysis software also predicts the consequences of DNA modifications, thus helping to identify differences causing diseases that are not already related to a known condition.
In addition, the software badyzes genetic information databases of healthy individuals to exclude DNA differences that appear to cause disease, but are harmless, minimizing the risk of false diagnosis.

Decode the genome of an individual

Experts say this system is particularly useful for diagnosing disorders that can be caused by many different genes, such as severe intellectual disabilities in children.

The use of genetics to diagnose diseases has taken a step further when advances in DNA sequencing technology have made it affordable and possible to decode a person's genome within days.

Professor David FitzPatrick, of the Institute of Genetics and Molecular Medicine of the Medical Research Council of the University of Edinburgh, said: "We have developed this software to help improve the quality of life. access to a safe, rapid and accurate diagnosis of serious genetic diseases worldwide. "

The new system, available free online, will facilitate the diagnosis of genetic diseases in clinical practice and in research programs.

Anja Thormann, Ensembl developer at the European Institute of Bioinformatics, said: "This evolution means that researchers do not have to review, for example, 300 variants to identify those that are relevant to that specific patient. This pipeline means that they may only need three or four variants. "