Featured Research

from universities, journals, and other organizations

Cutting through the genomic thicket in search of disease variants

Date:
September 25, 2012
Source:
Arizona State University
Summary:
Scientists and clinicians have turned to computer tools that sift meaningful genomic variants from the glut of mutations they face. Using a new tool researchers can now improve the accuracy of their analysis.

In the early stages of that vast undertaking known as the Human Genome Project, enthusiasm ran high. The enterprise would be costly and laborious but the clinical rewards, unprecedented. Once the complete blueprint of life was unlocked, the genetic underpinnings for a broad range of human maladies would be laid bare, allowing custom-tailored diagnosis and treatment and revolutionizing the field of medicine.

Or so it was thought.

Instead, "scientists were confronted with thousands of mutations in the collection of proteins in personal genomes, with no ready guide about what they meant in terms of health or disease," according to Sudhir Kumar, a researcher who directs the Center for Evolutionary Medicine and Informatics at Arizona State Unive rsity's Biodesign Institute.

Kumar explains that scientists and clinicians have turned to computer tools that sift meaningful variants from the glut of mutations they face. But the accuracy of these tools may be low, says Kumar.

Now Kumar, Li Liu and their colleagues describe a new technique that can reduce the rate of false positives in such tests, thereby increasing their reliability. The group's results recently appeared in the advanced online issue of the journal Nature Methods.

The new technique, labeled EvoD (for Evolutionary Diagnosis) capitalizes in part on comparative genomics -- an examination of DNA positions across evolutionary time and between diverse species -- to analyze the likely significance of particular human gene variants. EvoD was shown to work much better for positions that are the most evolutionarily conserved in the protein-coding portion of the human genome -- known as the exome.

As co-author Liu explains, researchers have taken a keen interest in mutations occurring at ultra-conserved sites in the exome, as these are usually the most critical in terms of protein function. Variants that are functionally damaging at such locations -- where evolution is highly resistant to change -- are likely to have profound effects on health, often producing so-called Mendelian diseases, which negatively impact health. EvoD performs better than existing methods in diagnosing these mutations.

The Center for Evolutionary Medicine and Informatics now provides EvoD as an online tool and genomic researchers have begun to use it already. The new technique and the tool pave the way for a deeper understanding of genomic variance and advances the quest for personalized disease diagnoses.


Story Source:

The above story is based on materials provided by Arizona State University. The original article was written by Richard Harth. Note: Materials may be edited for content and length.


Cite This Page:

Arizona State University. "Cutting through the genomic thicket in search of disease variants." ScienceDaily. ScienceDaily, 25 September 2012. <www.sciencedaily.com/releases/2012/09/120925091832.htm>.
Arizona State University. (2012, September 25). Cutting through the genomic thicket in search of disease variants. ScienceDaily. Retrieved August 30, 2014 from www.sciencedaily.com/releases/2012/09/120925091832.htm
Arizona State University. "Cutting through the genomic thicket in search of disease variants." ScienceDaily. www.sciencedaily.com/releases/2012/09/120925091832.htm (accessed August 30, 2014).

Share This




More Health & Medicine News

Saturday, August 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com
California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

Reuters - US Online Video (Aug. 30, 2014) California lawmakers pass a bill requiring universities to adopt "affirmative consent" language in their definitions of consensual sex, part of a nationwide drive to curb sexual assault on campuses. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
3 Things To Know About The Ebola Outbreak's Progression

3 Things To Know About The Ebola Outbreak's Progression

Newsy (Aug. 29, 2014) Here are three things you need to know about the deadly Ebola outbreak's progression this week. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins