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:2/2/2016)... Feb. 2, 2016 Checkpoint Inhibitors for ... Market Are you interested in the future ... for checkpoint inhibitors. Visiongain,s report gives those predictions ... and national level. Avoid falling behind in ... opportunities and revenues those emerging cancer therapies can ...
(Date:2/1/2016)... -- Today, the first day of American Heart Month, the ... first of its kind workplace health solution that leverages ... first application of Watson to ... Welltok will create a new offering that combines AHA,s ... on Welltok,s health optimization platform. The effort is intended ...
(Date:1/25/2016)... , Jan. 25, 2016  Glencoe Software, the ... pharma and publication industries, will provide the data management ... Centre (NPSC). ... Phenotypic analysis measures ... whole organisms, allowing comparisons between states such as health ...
Breaking Biology News(10 mins):
(Date:2/10/2016)... , ... February 10, 2016 , ... ... the International Society of Pharmaceutical Engineering (ISPE) Rocky Mountain Chapter 21st Annual Vendor ... expecting to fill more than 100 tables for its annual event, which will ...
(Date:2/10/2016)... ... February 10, 2016 , ... PatientCrossroads announces ... the secure online PatientCrossroads platform, has exceeded both its one-year and overall recruitment ... PROMPT study, which seeks to advance understanding of the hereditary risks for certain ...
(Date:2/10/2016)... ... February 10, 2016 , ... Cenna Bioscience Inc., an ... treatment of Alzheimer’s disease, announced today it has been selected to present at the ... Breakers in Palm Beach, Florida. The purpose of the Forum is to help ...
(Date:2/9/2016)... 9, 2016  Regenicin, Inc. (OTC Bulletin Board: ... the development and commercialization of regenerative cell therapies ... organs, recently reported the Company,s operating results for ... 2016. Lonza America , Inc. (the ... year in the process of consummating an agreement ...
Breaking Biology Technology: