Navigation Links
New software traces origins of genetic disorders 20 times more accurately
Date:10/23/2013

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.

The genomes of two healthy individuals show no less than four million differences or mutations. Most of these mutations are harmless, but just one extra, malignant mutation can be enough to cause a genetic anomaly. Existing analytical methods simply do not have the means to reliably and quickly find this needle in the haystack.

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 patients."

"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 Leuven.


'/>"/>

Contact: Dr. Ir. Yves Moreau
yves.moreau@esat.kuleuven.be
32-163-21075
KU Leuven
Source:Eurekalert

Related biology news :

1. DigitalPersona Expands Secure Banking Solutions Portfolio with Software Acquisition
2. QUT develops software to reduce greenhouse gases
3. BioClaim, Inc. Signs Biometric Software Contract with Amerigroup Florida
4. Researchers develop software tool for cancer genomics
5. Neurotechnology Announces NCheck Bio Attendance 2.0 Biometric Time and Attendance Software
6. Iris Biometrics Leader, EyeLock, Redefines Identity Authentication, Announces Availability of Software Development Kit to Accelerate Deployment of Technology
7. DigitalPersona Announces U.are.U Software Development Kit (SDK) for Android Applications
8. Identify Security Software to Make Cyberspace Secure Once And For All
9. Hyland Software Partners with Communication Intelligence Corporation (CIC), a Leading Supplier of Electronic Signature Solutions
10. Medbox Partners with Bio-Tech Medical Software to Create Nations Safest Prescription Drug and Medical Marijuana Distribution System
11. Crank Software Selects TREW Marketing for Embedded Industry Outreach
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/19/2016)... España y TORONTO , 19 de diciembre de ... Biologics Inc. que permitirá el desarrollo acelerado de MSC-1, un anticuerpo ... varios tipos de tumor en 2017, con múltiples sitios previstos a ... ... con objetivo en el factor inhibidor de leucemia (LIF), una citoquina ...
(Date:12/16/2016)... 2016 Research and Markets has announced the ... Forecast to 2021" report to their offering. ... The biometric vehicle access system ... CAGR of 14.06% from 2016 to 2021. The market is estimated ... reach 854.8 Million by 2021. The growth of the biometric vehicle ...
(Date:12/15/2016)... Germany , December 15, 2016 ... announced an agreement with NuData Security, an award-winning ... partnership will enable clients to focus on good customer experience, ... protection regulation. ... In order to provide a one-stop fraud prevention suite, ...
Breaking Biology News(10 mins):
(Date:1/20/2017)... (PRWEB) , ... January 20, 2017 , ... The two ... healthcare treatment options for patients. Vironika, a spin out from The Wistar Institute, and ... taking lab space at 3624 Market Street. , Vironika is developing a treatment ...
(Date:1/20/2017)... January 20, 2017 http://www.Financialbuzz.com ... one of leading causes of death worldwide. There were ... number of cancer related deaths increased gradually over time, ... incidence rate of various cancers continues to drive demand ... report by Global Market Insights, Inc. cancer biological therapy ...
(Date:1/19/2017)... 19, 2017  Market Research Future has a half cooked research ... Biopsy is growing rapidly and expected to reach USD 450 Million ... ... Biopsy Market has been assessed as a swiftly growing market and ... in the coming future. There has been a tremendous growth in ...
(Date:1/19/2017)... Jan 19, 2017 Research and Markets ... has announced the addition of the ... - Forecast to 2025" report to their offering. ... The report provides a detailed analysis on current and future market ... 2025, using estimated market values as the base numbers ...
Breaking Biology Technology: