Navigation Links
New method developed for ranking disease-causal mutations within whole genome sequences
Date:2/7/2014

Seattle, Wash. and Huntsville, Ala.Researchers from the University of Washington and the HudsonAlpha Institute for Biotechnology have developed a new method for organizing and prioritizing genetic data. The Combined AnnotationDependent Depletion, or CADD, method will assist scientists in their search for disease-causing mutation events in human genomes.

The new method is the subject of a paper titled "A general framework for estimating the relative pathogenicity of human genetic variants," published in Nature Genetics.

Current methods of organizing human genetic variation look at just one or a few factors and use only a small subset of the information available. For example, the Encyclopedia Of DNA Elements, or ENCODE, catalogs various types of functional elements in human genomes, while sequence conservation looks for similar or identical sequences that have survived across different species through hundreds of millions of years of evolution. CADD brings all of these data together, and more, into one score in order to provide a ranking that helps researchers discern which variants may be linked to disease and which ones may not.

"CADD will substantially improve our ability to identify disease-causal mutations, will continue to get better as genomic databases grow, and is an important analytical advance needed to better exploit the information content of whole-genome sequences in both clinical and research settings," said Gregory M. Cooper, Ph.D., faculty investigator at HudsonAlpha and one of the collaborators on CADD.

The goal in developing the new approach was to take the overwhelming amount of data available and distill it down into a single score that can be more easily evaluated by a researcher or clinician. To accomplish that, CADD compares and contrasts the properties of 15 million genetic variants separating humans from chimpanzees with 15 million simulated variants. Variants observed in humans have surviv
'/>"/>

Contact: Beth Pugh
bpugh@hudsonalpha.org
256-975-3414
HudsonAlpha Institute for Biotechnology
Source:Eurekalert

Page: 1 2

Related biology news :

1. New 3-D stem cell culture method published in JoVE
2. New methods for better purification of wastewater
3. More effective method of imaging proteins
4. New method for estimating parameters may boost biological models
5. New paper by Notre Dame researchers describes method for cleaning up nuclear waste
6. Scientists discover new method of proton transfer
7. Oceanographers develop method for measuring the pace of life in deep sediments
8. Notre Dame researchers using novel method to combat malaria drug resistance
9. Rapid method of assembling new gene-editing tool could revolutionize genetic research
10. Scientists advance field of research with publication of newly validated method for analyzing flavanols in cocoa
11. Chemical engineers at UMass Amherst find high-yield method of making xylene from biomass
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2015)... NEW YORK , June 24, 2015 ... Systems market, over the next six years. It contains ... affect the industry, along with their impact from the ... It also discusses the industry, market, and technology ... expected that the need of concerned authorities to efficiently ...
(Date:6/24/2015)... , June 22, 2015 ... announced the addition of the "Huawei Ascend ... report to their offering. Huawei,s ... to the opposite direction than Apple,s and Samsung,s ... fingerprint sensor developed by Fingerprint Cards, a main ...
(Date:6/23/2015)...   MedNet Solutions , an innovative SaaS-based ... of clinical research, is pleased to announce that ... company,s intuitive, flexible and affordable cloud-based eClinical technology ... Award by the American Business Awards (SM) ... The American Business Awards are considered the nation,s ...
Breaking Biology News(10 mins):Automatic Identification System Market by Class, by Platform, by Application and by Geography - Global Forecasts & Analysis to 2014 - 2020 2Huawei Ascend Mate 7 Fingerprint Sensor - Reverse Costing Analysis 2MedNet Solutions' iMedNet eClinical Wins Silver Stevie Award 2
... harnessing of 'T-rays' - electromagnetic terahertz waves - which ... varied as biological cell abnormalities and explosives has been announced. ... in Spain have said they have found a way to ... Their findings are set out in a letter published in ...
... heart is removed, the dynamic interplay between a mass ... the protective cell layer that covers the wound spurs ... Medical Center scientists have found. , The scientists further ... the cell mass and the protective covering, encouraging the ...
... Institute of Virology and Immunology (GIVI) have identified a previously ... HIV, a finding that may lead to new approaches for ... Oct. 2, 2006, in Proceedings of the National Academy of ... laboratory of GIVI Director Warner C. Greene, MD, PhD, explains ...
Cached Biology News:T-ray breakthrough could make detecting disease far easier 2Key to zebrafish heart regeneration uncovered 2Key to zebrafish heart regeneration uncovered 3Gladstone investigators identify a new protective action for the powerful anti-HIV factor, APOBEC3G 2
(Date:7/6/2015)... 2015 Navitas, a leading Regulatory Service provider, today announced that ... in Bogota, Colombia . Navitas, expansion into ... by Colombia , the third largest economy in ... Logo - http://photos.prnewswire.com/prnh/20150703/228239LOGO ... clients to communicate with Navitas regulatory professionals in close to or the ...
(Date:7/3/2015)... ... July 03, 2015 , ... The ... companies and professional service industries alike-- typically known for its consummate professionalism-- embarks ... a good cause and break from their day jobs. , "Our motto has ...
(Date:7/3/2015)... 2015 Forskere kan ... på  http://www.openinnovationinscience.at om efteruddannelsesprogrammet "Lab for ... i Wien .  ... forskere og videnskabsmænd foretaget af Ludwig Boltzmann ... for sundhedsvidenskaben manglen på incitamenter til at ...
(Date:7/2/2015)... ALTO, Calif. (PRWEB) , ... July 02, 2015 , ... ... to improve an individual’s quality of sleep, launched its Indiegogo campaign on June 23. ... functionality: Luzi's voice command technology makes it effortless to use, while the integration of ...
Breaking Biology Technology:Navitas Launches Latin American Regulatory Operations Hub in Bogota, Colombia 2Navitas Launches Latin American Regulatory Operations Hub in Bogota, Colombia 3The Alexander Group Declares Their Independence with a Bit of Levity 2Lancering af verdens første åbne innovationsprogram til uddannelse af forskere 2Lancering af verdens første åbne innovationsprogram til uddannelse af forskere 3Luzi Smart Lamp Recently Launched Indiegogo Campaign 2Luzi Smart Lamp Recently Launched Indiegogo Campaign 3
... take it for granted the lights will always be on ... temporarily bring down power lines and interrupt electrical service to ... power will always be there - day in, day out ... as easy as flipping a switch. While Wisconsin has come ...
... -- As lawmakers and business proponents pressure the ... more in Wisconsin technology start-ups, improving business conditions ... after SWIB brought in investment representatives to discuss ... Kanavas (R-Brookfield) met with SWIB executive director David ...
... the University of Wisconsin-Madison will focus on raising campus ... and other cyber-threats to personal privacy and financial security. ... new chief Internet technology security manager, intends to bring ... that thrive on the free flow of information, universities ...
Cached Biology Technology:Keeping Wisconsin supplied with energy won't get any easier 2Keeping Wisconsin supplied with energy won't get any easier 3SWIB gets more pressure to invest in state tech start-ups 2New UW position focusing on Internet security 2
... These 384-Well Microarray plates are ideal for ... low volume liquid handling applications (down to 5µl). ... or cylindrical well design. Features ... well formats available 70µl well volume (cylindrical ...
Anti-Phospho-JKK/SEK1/MKK4 pAb Description: 100 g rabbit polyclonal antibody. Reacts with human/mouse/rat. Tested in WB. Research Focus: signal transduction Storage: -20C Shipping Tem...
...
... Solution, High pH This pH 9.9 ... prior to immunohistochemical staining procedures. It is ... mounted on glass slides. For particular antigens, ... especially effective. It should be noted that ...
Biology Products: