Navigation Links
Exome sequencing gives cheaper, faster diagnosis in heterogeneous disease
Date:6/24/2012

Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics today (Monday). The scientists were able to perform a genetic diagnosis in around 20% of 100 cases of patients with intellectual disability (ID) and 50% of the 25 cases of blindness studied. Not only is the exome test cheaper, but results are available more quickly than with Sanger sequencing[1], they say.

Dr. Marcel Nelen, head of the Core Genome Analysis Laboratory of the Genetics Department at Radboud University Medical Centre, Nijmegen, will describe to delegates how he and colleagues at the University examined exome sequences from 262 patients with six heterogeneous diseases: ID, blindness, deafness, movement disorders, cancer, and OXPHOS diseases[2]. In all, the researchers analysed about 500 exome sequences. In the ID cases, exomes from the father, mother and the child were analysed; in all the other diseases, the exome data from the patient alone was filtered for known causative disease genes.

"The chances of finding a causal mutation in a single gene is small", says Dr. Nelen, "but in a package containing more than 100 genes it is high, as our results from the blindness patients show. This new strategy means that we can analyse up to 20,000 genes with a single generic test, and the high throughput and lower cost means that we can test more for less money. But before we implemented the test more widely in our laboratory we needed to be sure that it would give us reliable diagnostic results."

Exons are short sequences of DNA representing the regions in genes that are translated into protein. The human genome contains about 180,000 exons, constituting about 1% of the total genome. While exome sequencing is only able to identify tho
'/>"/>

Contact: Mary Rice
mary.rice@riceconseil.eu
European Society of Human Genetics
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. University of North Texas Health Science Center Advances Forensic Research by Investing in Semiconductor DNA Sequencing Technology
2. Next-generation sequencing technology opens doors to discoveries
3. DNA Sequencing: Emerging Technologies and Applications
4. The sequencing of the tomato genome
5. Sequencing works in clinical setting to help -- finally -- get a diagnosis
6. Powerful sequencing technology decodes DNA folding pattern
7. Esther B. OKeeffe Foundation gives $2 million to the Scripps Research Institute
8. Analysis of speed of Greenland glaciers gives new insight for rising sea level
9. Researchers find mechanism that gives plants balance
10. From scourge to saint: E. coli bacteria becomes a factory - to make cheaper, faster pharmaceuticals
11. Faster, cheaper gas and liquid separation using custom designed and built mesoscopic structures
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/24/2015)... TOWN, South Africa , August 24, 2015 ... Germany ,s largest biometrics manufacturer DERMALOG and ... with the "2015 African Biometrics Company of the Year ... in Nigeria .   -Cross ... and http://www.presseportal.de/nr/8896 - On Thursday evening, ...
(Date:8/19/2015)... N.Y. , Aug. 19, 2015  VOXX ... that it has entered into a Definitive Agreement ... property, of iris authentication market leader EyeLock through ... VOXX will have a controlling interest in the ... subject to completion of due diligence.  Expanding on ...
(Date:8/12/2015)... As the digital payment services ... advanced biometrics technology is accelerating beyond expectations.  While the ... using their credit cards, the digital currency, mobile payment ... services led by companies in the space such as ... (NASDAQ: GOOG ), Apple Inc. (NASDAQ: AAPL ...
Breaking Biology News(10 mins):Frost & Sullivan Honors DERMALOG with Biometrics Prize for Achievements in Africa 2Frost & Sullivan Honors DERMALOG with Biometrics Prize for Achievements in Africa 3VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 2VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 3VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 4VOXX International Corporation Signs Definitive Agreement To Acquire The Assets And A Controlling Interest Of Biometric Leader EyeLock 5Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 2Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 3Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 4Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 5Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 6
... that spring from the talents of Rembrandt, Van Gogh ... a gradient of colors on a palette. In a ... and Technology (NIST) have created an innovative device called ... changes in concentration across an areain a miniature chamber ...
... John Spence, a physicist at Arizona State University, is ... Lawrence Berkeley National Laboratory, where he has contributed to ... propensity for someone who works with x-rays, since they ... new light sources evolve to produce brighter x-rays in ...
... cell research promises remedies to many devastating diseases that ... to paralysis. Totipotent embryonic stem cells have great potential ... that can be used to restore malfunctioning or damaged ... that pluripotent stem cells derived from adult bone marrow, ...
Cached Biology News:'Microfluidic palette' may paint clearer picture of biological processes 2Jet-propelled imaging for an ultrafast light source 2Jet-propelled imaging for an ultrafast light source 3Jet-propelled imaging for an ultrafast light source 4Jet-propelled imaging for an ultrafast light source 5Jet-propelled imaging for an ultrafast light source 6Stem cell research: From molecular physiology to therapeutic applications 2Stem cell research: From molecular physiology to therapeutic applications 3Stem cell research: From molecular physiology to therapeutic applications 4
(Date:8/27/2015)... 2015 HUYA Bioscience International (HUYA) today announced the ... Society of HTLV-1, held this week at the University ... the Society is to promote research on HTLV-1 and ... technology and research related to these fields to advance ... is proud to support this prestigious conference," said ...
(Date:8/27/2015)... ... August 27, 2015 , ... Proove Biosciences, ... data on the relationship of genetics and hypertension at the International Academy ... in Vancouver, British Columbia, Canada. The event, which boasts an extensive overview of ...
(Date:8/26/2015)... 26, 2015  The Diabetes Research Institute (DRI), ... Miami Miller School of Medicine, announced today that ... test for the first time a novel transplant ... FDA approved Phase I/II study builds upon decades ... an important first step toward the development of ...
(Date:8/26/2015)... England , August 26, 2015 ... Ltd against Europlasma NV relating to P2i United ... have resolved their dispute in the United States ... liability on the part of either party. As a result ... Central District of California dismissed the ...
Breaking Biology Technology:HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 2HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 3HUYA Bioscience International Sponsors Japan Society Of HTLV-1 Annual Meeting 4Proove Biosciences Presents Ground-Breaking Data on Genetics and Heart Disease at 20th World Congress on Heart Disease 2Proove Biosciences Presents Ground-Breaking Data on Genetics and Heart Disease at 20th World Congress on Heart Disease 3Diabetes Research Institute Successfully Transplants First Patient In Pilot BioHub Trial 2Diabetes Research Institute Successfully Transplants First Patient In Pilot BioHub Trial 3Diabetes Research Institute Successfully Transplants First Patient In Pilot BioHub Trial 4P2i Settles United States Litigation 2
... second time this year, a tech-based company in Wisconsin has ... public. Called an initial public offering, this kind of business ... who are directly involved, but to others who may follow ... company, has filed papers with the Securities and Exchange ...
... Madison, Wis. - Alfalight , a manufacturer ... and development contract worth $1.7 million from the ... Alfalight will develop pump modules suitable for pumping high-power, ... for defense applications and new commercial products. , ,Manoj ...
... athlete only three years ago, but his Milwaukee-based mobile software ... opening in 1996. , ,And now, the route of ... Asia. , ,Psuik, founder and owner of Developer ... with O2 , a European mobile phone provider, to ...
Cached Biology Technology:Wisconsin IPOs are a harbinger of growing tech economy 2Wisconsin IPOs are a harbinger of growing tech economy 3Milwaukee software developer gains bottom line, loses waistline 2Milwaukee software developer gains bottom line, loses waistline 3Milwaukee software developer gains bottom line, loses waistline 4
This modular benchtop fume hood ventilates and purifies chemical fumes, allowing safe indoor release of exhaust. Bonded charcoal filters remove most organic contaminants. Options include final HEPA f...
... determined by Biuret. Physical form: ... 4 ) 2 SO 4 ... Affinity purified • Physical Form: ... MgCl 2 1 ZnCl ...
... PP2A, purified MW: 60kDa (A) ... glycerol, 20mM MOPS, pH 7.5, 500mM ... EGTA, 0.1mM MnCl2 1mM DTT, and ... in vitro dephosphorylation of proteins. Purification: ...
... siRNA Tracker Intracellular Localization Kit provides a ... deliver siRNA, of your design, in an ... tracking experiments. Subcellular localization and functional inhibition ... following introduction of the labeled siRNA into ...
Biology Products: