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:8/29/2015)... ... ... On Saturday, September 19, 2015, Diane Blackburn-Zambetti, the Director of Policy and Prevention ... educational program titled “Asbestos and Your Health.” , The two and one half hour ... at Calvary United Methodist Church, 16 E Park Ave., Ambler, PA 19002. , This ...
(Date:8/29/2015)... ... August 29, 2015 , ... Dr. Tim Novelli, DC., Founder ... mission is to increase acceptance of the chiropractic field in the military. All too ... them. Although Chiropractic was made available to the VA program over a decade ...
(Date:8/29/2015)... ... 29, 2015 , ... People who have heart or lung ... asthma, are at higher risk from wildfire smoke especially in Calgary, Alberta.Those with ... problems (arrhythmia or irregular heartbeat) are also sensitive to air pollution. , ...
(Date:8/28/2015)... AZ (PRWEB) , ... August 29, 2015 , ... ... reinvent higher learning and the student experience as part of the EDUCAUSE - Next ... Gates Foundation . , This is the third Breakthrough Models Incubator hosted ...
(Date:8/28/2015)... ... August 28, 2015 , ... The Kentucky State Department ... qualified for the position they are applying for, they are unable to pass the ... are considering altering drug testing policies in order to be able to hire long-term, ...
Breaking Medicine News(10 mins):Health News:Mesothelioma Applied Research Foundation to Hold Educational Class About Asbestos and Mesothelioma Prevention 2Health News:The Patriot Project brings Chiropractic Care to the Armed Forces and their Families - Rapid Release Technology Joins the Effort to Recruit more Doctors to Pledge 2Health News:Heart Fit Clinic Sounds the Alarm on Forest Fire Smoke and Chronic Heart Disease in Calgary Area 2Health News:Rio Salado College Joins 9 Educational Leaders to Reinvent Higher Learning 2Health News:Rio Salado College Joins 9 Educational Leaders to Reinvent Higher Learning 3Health News:Rio Salado College Joins 9 Educational Leaders to Reinvent Higher Learning 4Health News:Hiring Obstacles: Drug Abuse a Problem for Workforce 2Health News:Hiring Obstacles: Drug Abuse a Problem for Workforce 3Health News:Hiring Obstacles: Drug Abuse a Problem for Workforce 4
... from Netherlands said that men with increased levels of sex ... dementia. // ,This hormone is present at a ... results are published in the Annals of Neurology. Dr. Mirjam ... the study among 2974 older men for a period of ...
... new review of 70 studies shows that alternative and ... easing symptoms associated with menopause.// The review article is ... Internal Medicine, one of the JAMA/Archives journals. ... next decade, and many of them will experience hot ...
... in 2500 people suffer from hereditary Charcot-Marie-Tooth (CMT) disease. ... unclear. However researchers from the// Flanders Interuniversity Institute for ... now reported that mutations in mitofusin 2 are the ... also be the basis of a new genetic test. ...
... Louis University geriatricians say that many older adults who ... their problem has no// solution need not fret any ... life, but sleep problems in the elderly are not ... assistant professor of geriatrics at Saint Louis University, and ...
... Ranbaxy Laboratories and Aurobinda Pharma were among some of ... UN Secretary General Kofi Annan // for their ... ,Annan complimented these companies for their efforts ... a meeting with their top executives at United Nations ...
... novel idea of using air waves to propagate AIDS awareness ... concept, pioneered by the Madhya Pradesh State AIDS Control Society ... the radio dealing exclusively with AIDS-related issues. ,"Using ... has two advantages. Firstly, no other media can match the ...
Cached Medicine News:Health News:Alternative Therapies May Not Ease Menopause Symptoms 2Health News:Genetic Mutation Implicated in Charcot-Marie-Tooth Disease 2Health News:Help Near At Hand For Elderly With Disturbed Sleep 2Health News:Madhya Pradesh Uses Radio to Create Awareness About AIDS 2
(Date:8/28/2015)... 28, 2015  IP Shakti, LLC, today announced that it ... Logo - http://photos.prnewswire.com/prnh/20150827/261551LOGO ... new corporate identity signifies our transformation into a company focused ... platform for patent claim validity." ... proprietary AIA Shield™ platform, the Company commenced a corporate re-branding ...
(Date:8/28/2015)... , FARUM, Denmark and ... On July 31, 2015 the US Food and Drug ... treatment of Major Depressive Disorder in adult patients who have ... the current episode. TMS is a non-invasive technique for stimulating ... patients suffering from Major Depressive Disorder. The procedure has been ...
(Date:8/28/2015)... , August 28, 2015 The report "Eubiotics ... (Pork/Swine, Poultry, Ruminant, and Aquaculture), & by Region ( ... Asia-Pacific , and Rest of the World) - ... global market for Eubiotics was valued at USD 4.62 Billion ... by 2020, at a CAGR of 7.4% from 2015 to ...
Breaking Medicine Technology:IP Shakti, LLC Changes Company Name to Prediqtus, LLC 2Therapy System for Treating Major Depressive Disorder Receives FDA Clearance 2Therapy System for Treating Major Depressive Disorder Receives FDA Clearance 3Eubiotics Market Worth 7.05 Billion USD by 2020 2Eubiotics Market Worth 7.05 Billion USD by 2020 3Eubiotics Market Worth 7.05 Billion USD by 2020 4Eubiotics Market Worth 7.05 Billion USD by 2020 5
... SPRING, Md., July 13, 2011 The U.S. Food ... warning health care providers and patients that surgical placement ... prolapse may expose patients to greater risk than other ... The safety communication also says that with ...
... Corporation,s Orthopaedics division has reached a mutual agreement with ... of the Cormet Hip Resurfacing System. Stryker will no ... "Distribution of a hip resurfacing device no longer ... Vice President, Global Hip Reconstruction Marketing, Stryker Orthopaedics. Stryker,s ...
Cached Medicine Technology:FDA: Surgical Placement of Mesh to Repair Pelvic Organ Prolapse Poses Risks 2FDA: Surgical Placement of Mesh to Repair Pelvic Organ Prolapse Poses Risks 3FDA: Surgical Placement of Mesh to Repair Pelvic Organ Prolapse Poses Risks 4Stryker Ends Distribution Agreement With Corin PLC 2
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
... ARUP Laboratories is a national reference laboratory ... research and development. ARUP offers an extensive ... medical tests in clinical and anatomic pathology. ... Laboratories' clients include more than half of ...
... is a national reference laboratory and a ... development. ARUP offers an extensive test menu ... in clinical and anatomic pathology. Owned by ... include more than half of the nation's ...
Medicine Products: