New Software Traces Origins of Genetic Disorders 20 Times More Accurately

In a bioinformatics breakthrough, iMinds-STADIUS - KU Leuven researchers have successfully applied advanced artificial intelligence to enable the automated analysis of huge amounts of genetic data. Their new software suite, eXtasy, automatically generates the most likely cause of a given genetic disorder. The breakthrough directly impacts the treatment of millions of people with a hereditary disease.

At least 5% of the world population suffers from a rare, hereditary disease. Until recently, the origins of these genetic disorders could be correctly identified in only half of all cases. The lack of a conclusive diagnosis prolongs uncertainty for both the patients and their families and marks the beginning of a long search, and expensive, strenuous and even unnecessary treatments.

The introduction of new, cheaper technologies for deciphering the human genome held the promise of a quicker and more accurate diagnosis of hereditary diseases. But this proved challenging –particularly because of the huge amount and complexity of the data to be processed.