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:5/24/2016)... , May 24, 2016 Ampronix facilitates superior patient care by providing ...  3D medical LCD display is the latest premium product recently added to the range ... ... ... Sony 3d Imaging- LCD Medical Display- Ampronix News ...
(Date:5/3/2016)... , May 3, 2016  Neurotechnology, a ... the MegaMatcher Automated Biometric Identification System (ABIS) ... large-scale multi-biometric projects. MegaMatcher ABIS can process multiple ... using any combination of fingerprint, face or iris ... MegaMatcher SDK and MegaMatcher Accelerator , ...
(Date:4/19/2016)... The new GEZE SecuLogic access ... "all-in-one" system solution for all door components. It can ... door interface with integration authorization management system, and thus ... minimal dimensions of the access control and the optimum ... offer considerable freedom of design with regard to the ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... Md. , June 23, 2016 A person ... from the crime scene to track the criminal down. ... the U.S. Food and Drug Administration (FDA) uses DNA evidence ... Sound far-fetched? It,s not. The FDA ... sequencing to support investigations of foodborne illnesses. Put as simply ...
(Date:6/23/2016)... Cancer Foundation (PCF) is pleased to announce 24 new Young Investigator (YI) ... of the Class of 2016 were selected from a pool of 128 applicants ... the Class of 2016 PCF Young Investigators ... ... ...
(Date:6/23/2016)... ... June 23, 2016 , ... Supplyframe, the Industry Network for ... Design Lab . Located in Pasadena, Calif., the Design Lab’s mission is to ... are designed, built and brought to market. , The Design Lab is Supplyframe’s ...
(Date:6/23/2016)... June 23, 2016 Apellis Pharmaceuticals, Inc. ... clinical trials of its complement C3 inhibitor, APL-2. ... multiple ascending dose studies designed to assess the ... subcutaneous injection in healthy adult volunteers. ... as a single dose (ranging from 45 to ...
Breaking Biology Technology: