Navigation Links
Surprising findings from NHLBI Exome Sequencing Project reported
Date:11/6/2012

A multi-institutional team of researchers has sequenced the DNA of 6,700 exomes, the portion of the genome that contains protein-coding genes, as part of the National Heart, Lung and Blood Institute (NHLBI)-funded Exome Sequencing Project, one of the largest medical sequencing studies ever undertaken.

Scientists participating in the project initially expected that individual rare variants would have a greater effect on over 80 heart, lung and blood related traits and diseases of high public health significance, said Suzanne M. Leal, Ph.D., professor and director, Center for Statistical Genetics in the Department of Molecular and Human Genetics of Baylor College of Medicine in Houston, TX.

The researchers found that many (1.1 million) of the 1.2 million coding variants that they identified in exome data from 4,420 European-Americans and 2,312 African-Americans occurred very infrequently in the population and often were only observed in a single individual, explained Dr. Leal, who presented the findings today at the American Society of Human Genetics 2012 meeting.

Dr. Leal added that most of the observed coding variants are population specific, occurring in either European or African Americans. "Of the identified variants, about 720,000 change the genetic code in a manner that could produce flawed proteins. Yet the role played by most of these variants in disease development has not been established," she said.

The major goal of the project was to understand how variation in the exome affects heart, lung and blood related traits and diseases.

The study participants were selected from a sample of over 220,000 individuals who participated in another National Institute of Health (NIH) supported study that had collected extensive medical data on the participants. "Individuals were selected to have a disease endpoint of interest or an extreme trait value of public health importance," said Dr. Leal.

By sequencing
'/>"/>

Contact: Cathy Yarbrough
press@ashg.org
858-243-1814
American Society of Human Genetics
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Comparison of Obesity Surgeries Turns Up Surprising Results
2. Generation X is surprisingly unconcerned about climate change
3. NYC Doc Announces 3 Surprising Ways to Beat Seasonal Allergies
4. Surprising results for use of dialysis for kidney failure in developing world
5. Recent findings may help to fight melanomas resistance to chemotherapy
6. New findings on mens genes could alter interpretation of PSA test
7. Unexpected findings at multi-detector CT scans: Less reason to worry
8. MRI findings shed light on multiple sclerosis
9. New findings by GW researcher break tanning misconceptions: There is no such thing as a safe tan
10. Relief for Migraine Sufferers as The Life House Offers New Findings, Free Consults
11. Columbus Allergist Dr. Summit Shah Discusses Recent Findings on Food Allergies and Exercise-Induced Anaphylaxis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/23/2014)... The Nordic Times is a Non-commercial ... ApS, a Danish media company based in the heart ... cutting-edge news, blogs, social feeds, and original content covering ... news from around the world. , The Nordic Times ... the way that virality has changed and shaped journalism ...
(Date:9/23/2014)... Texas (PRWEB) September 23, 2014 According ... Finance Tough Mudder team just completed the Pittsburg ... obstacle course event that helps fund the wounded warrior ... Tough Mudder team member, the ”Tough Mudder is an ... obstacle course. Designed and created by British Special Forces ...
(Date:9/23/2014)... University of Cambridge has found that a common characteristic of ... ,signature, in the brain. The results are published today (23 ... The researchers studied 80 adult men with autism: 38 who ... found that language delay was associated with differences in brain ... lobe, insula, ventral basal ganglia, which were all smaller in ...
(Date:9/23/2014)... Syracuse, NY (PRWEB) September 23, 2014 Published ... suffering with mobility issues to take charge of their mobility ... to install and positively impactful. Stair lifts are that ... a home. , “Being in the elevator business, ... how to help themselves or a loved one with mobility ...
(Date:9/23/2014)... Recently, BuyTopDress.com, a popular supplier of wedding dresses and special ... fashionable marine ball dresses . Along with this, the ... brand new items; all of them are now provided with ... now, BuyTopDress.com has won more than 2000 happy customers in ... its products and after-sale services. The company is offering thousands ...
Breaking Medicine News(10 mins):Health News:Launching of The Nordic Times, a new online newspaper and aggregator. 2Health News:Presence or absence of early language delay alters anatomy of the brain in autism 2Health News:Nationwide Lifts, America’s Leader in Home Elevators, Is Proud to Announce the Release of Its First Book, “Stair Lifts: Move Up, Not Out!” 2Health News:Fashionable Marine Ball Dresses Added To BuyTopDress.com’s Collection 2
... door-to-door counseling in low-income Hispanic neighborhoods has cost ... questions about whether different strategies are needed" for ... Mountain News reports. ,Colorado in ... far directed $61 million to smoking cessation programs. ...
... Testing for tuberculosis has revealed that nearly 40% of the ... higher levels// in those who work in TB clinics. The ... disease is a growing problem worldwide. Russia is one country ... of the world's population are infected with the bacterium that ...
... who develop lung cancer as 10 to 15 percent//. ... offer support to these estimates, in the form of similar ... of Oncology, Dr. Heather Wakelee of Stanford University in California ... lung cancer patients are women who have never smoked. ...
... found additional evidence that the stress hormone cortisol can ... which brings long-term elevations of cortisol in the bloodstream, ... new study adds to mounting evidence that cortisol given ... may lessen the stressor’s emotional impact. ,Psychologists ...
... dramatic advances in breast cancer management, according to ... approaches in breast cancer imaging, investigations into the ... vaccines may lead to exciting new nonsurgical tools ... new tools may significantly alter current screening and ...
... their MBBS examinations in Rajasthan need not despair about becoming ... for these students, a move that is being questioned by ... view of the increasing number of failures in MBBS and ... clear the examination. ,As many as 25 ...
Cached Medicine News:Health News:Extra Cortisol Protects Women’s Mood Under Stres 2Health News:Emerging Research Heralds New Era of Breast Cancer Management 2
(Date:9/23/2014)... 23, 2014   BioLife Solutions , Inc. (NASDAQ: ... marketer of proprietary clinical grade hypothermic storage ... thermal shipping products for cells and tissues  ("BioLife" ... its Scientific Advisory Board.  The new members are ... PhD. Dr. Acker is a Senior Development ...
(Date:9/22/2014)... Spain , September 23, 2014 ... to meet health authorities, increasing rigor for trial master ... life sciences industry,s largest TMF survey to date reveals ... that plan to provide auditors with remote access to ... of TMF owners surveyed in the Veeva ...
(Date:9/22/2014)... The western European automated endoscope reprocessor ... a replacement market with fewer new installations due ... partnerships are redefining competitive landscape in western ... details about revenue forecasts, unit shipments, market share ... country. The changing landscape makes it important to ...
Breaking Medicine Technology:BioLife Solutions Announces the Addition of Jason Acker, MBA, PhD and Anthony Davies, PhD to its Scientific Advisory Board 2BioLife Solutions Announces the Addition of Jason Acker, MBA, PhD and Anthony Davies, PhD to its Scientific Advisory Board 3BioLife Solutions Announces the Addition of Jason Acker, MBA, PhD and Anthony Davies, PhD to its Scientific Advisory Board 4BioLife Solutions Announces the Addition of Jason Acker, MBA, PhD and Anthony Davies, PhD to its Scientific Advisory Board 5BioLife Solutions Announces the Addition of Jason Acker, MBA, PhD and Anthony Davies, PhD to its Scientific Advisory Board 6BioLife Solutions Announces the Addition of Jason Acker, MBA, PhD and Anthony Davies, PhD to its Scientific Advisory Board 7Remote eTMF Access to Double in 2015, Reveals Industry-wide Survey 2Remote eTMF Access to Double in 2015, Reveals Industry-wide Survey 3Remote eTMF Access to Double in 2015, Reveals Industry-wide Survey 4Automated Endoscope Reprocessor Market Trends in Western Europe 2Automated Endoscope Reprocessor Market Trends in Western Europe 3
... 6, 2011 The American Animal Hospital Association ... ) are collaborating on a new series for online ... real-life examples, the "Solve It! Series" combines engaging content ... element of mystery. Designed by a panel of experts, ...
... 6, 2011 ContinuumRx and Mississippi Baptist Health Systems ... new home infusion pharmacy that will serve ... model designed to improve patient outcomes with a more ... partnership will not only improve our core operations and ...
Cached Medicine Technology:American Animal Hospital Association and Heska Corporation Announce New Online Continuing Education Series 2ContinuumRx Forms Healthcare Joint Venture with Mississippi Baptist Health Systems 2
The Snap-In Snap-Out-II Tip Inserts offer a large variety of configurations....
The Snap-In Snap-Out-II Tip Inserts offer a large variety of configurations....
Smooth, rounded working end manipulates organs less traumatically. Used as a general manipulative instrument....
This probe coagulates bleeders while suction channel with trumpet valve simultaneously evacuates smoke....
Medicine Products: