New software detects genetic diseases 20 times more accurately
30 October 2013
A new set of computer programs developed at the iMinds research
institute at KU Leuven can rapidly identify hereditary diseases from
the vast amounts of data generated by genetic analysis.
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 as
existing analytical methods simply do not have the means to reliably
and quickly find this 'needle in the haystack'.
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.
The genomes of two healthy individuals show around four million
differences or mutations. Most of these mutations are harmless, but
just one extra, malignant mutation can be enough to cause a genetic
The eXtasy software suite developed by iMinds – STADIUS – KU
Leuven researchers drastically changes this outlook. The program can
trace the origins of genetic disorders twenty times more accurately
than existing analytical methods.
“eXtasy uses advanced artificial intelligence to combine whole
sets of complex data into a global score that reflects how important
a certain mutation is for a certain disease. This data can consist
of networks of interacting proteins, but could also include
scientific publications or even scores that estimate how harmful a
mutation is for the protein in question,” explains Prof. Dr. Yves
Moreau of iMinds – STADIUS – KU Leuven.
“In this way, we can detect disease-causing mutations twenty
times more accurately, and provide patients and their families with
a much faster and more conclusive diagnosis. We hope this can
considerably improve and accelerate the treatment of millions of
“Searching for disease-causing mutations in a patient’s genome is
really like searching for one specific needle in an enormous pile of
needles. eXtasy allows us to formulate more accurate diagnoses,
which in turn forms the basis of customized treatments,” says Prof.
Dr. Joris Vermeesch, who heads the Laboratory for Cytogenetics and
Genome Research at KU Leuven.
“Practical applications of genome sequencing technology are
possible only if variations can be interpreted accurately. eXtasy is
a step in the right direction,” adds Prof. Dr. Koen Devriendt, Head
of the Department of Human Genetics at the University Hospital of
Alejandro Sifrim et al. Xtasy: variant prioritization by
genomic data fusion. Nature Methods, 2013.