Navigation Links
New Map of Genomic Variation Will Enable Disease Research
Date:7/15/2009

sent normal variation."

The investigators analyzed DNA from blood samples taken from 2,026 subjects. The subjects were healthy children and their parents, all of them drawn from primary care and well-child clinics in the Children's Hospital health care network. Of the samples, 65 percent were from Caucasians and 34 percent from African Americans. The number of subjects makes this CNV collection among the largest reported to date, and because all the samples were collected and analyzed under the same protocols, using the same technology, and at one institution, the results have a uniformity that increases their value as benchmarks.

The CNV map has a higher resolution than most previous efforts, say the authors, with over 50,000 CNVs catalogued throughout the genome. Three-quarters of these were "non-unique," occurring in multiple unrelated individuals. A majority (51.5 percent) of these non-unique CNVs were newly discovered. On average the healthy subjects in the study have approximately 27 CNVs each.

The researchers have posted the full CNV database on the Hospital's website, where it is freely available in searchable form to gene researchers worldwide. The web browser also enables researchers to compare specific CNVs to those collected in public data repositories from other institutions.

"This resource will be very important in enabling rapid and accurate diagnoses of rare diseases resulting from CNVs," said lead author Tamim H. Shaikh, Ph.D., a molecular geneticist at Children's Hospital. Often puzzling to physicians, such genetic diseases may be individually rare, but collectively occur at frequencies that are comparable to the incidence of well-known disorders such as Down syndrome. "In order to pinpoint the one CNV that is the cause of a disease, it is critical to quickly eliminate those that are part of the spectrum of normal variation that exists in the human genome. That's
'/>"/>

SOURCE The Children's Hospital of Philadelphia
Copyright©2009 PR Newswire.
All rights reserved

Page: 1 2 3 4

Related medicine news :

1. Mayo Genomic Discovery: Protecting Kidney Function During Heart Failure
2. Lethality of H1N1 Influenza Virus Increasing According to Latest Replikin Analysis of Virus Peptide Genomic Data
3. NeoGenomics to Present at Noble Financials 5th Annual Equity Conference on Monday, June 8th
4. Ingenuity and Integromics Offer Integration for Comprehensive Genomics Analysis
5. Falcon Genomics Awarded Patent for Innovative Cancer Test
6. Genomics for a Greener World
7. Genomic Health to Present Multiple New Studies at the American Society of Clinical Oncology Annual Meeting
8. Genomic Healths Oncotype DX(R) Colon Cancer Test Predicts Individualized Recurrence Risk for Stage II Colon Cancer Patients
9. Genomic Health to Present at JMP Securities Research Conference
10. Video: Turning Hope Into Reality - Genomics Research at the VA
11. Genomic Health to Announce First Quarter 2009 Financial Results and Host Conference Call on Tuesday, May 5, 2009
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/27/2014)... “Wekho” was featured on NewsWatch as part of its ... on the iOS, Android, and Windows markets. Andrew Tropeano, a ... app review and shared with viewers how it allows ... new way to travel and experience the world has just ... Wekho and it’s a free geolocation app that lets users ...
(Date:11/27/2014)... Albany, IN (PRWEB) November 27, 2014 Dr. ... implant clinic, has a few oral health tips before ... Receveur, who offers Louisville and New Albany affordable cosmetic ... of foods high in starch and sugar. While the staff ... has some helpful tips for how patients can enjoy a ...
(Date:11/27/2014)... 27, 2014 Aria Health President ... employees, prepared and donated 200 Thanksgiving dinners on ... House , a non-profit, community-based organization committed to ... Philadelphia. The dinners were assembled in the dining ... and distributed to vulnerable low income seniors in ...
(Date:11/27/2014)... GA (PRWEB) November 27, 2014 "The uglier, ... whole month of December is full of laughter as we ... Wilson won by making a sweater from scratch. " It ... Christmas tree, and if that weren't ridiculous enough, the Christmas ... top. , For those interested in participating this year, ...
(Date:11/27/2014)... Rosa, California (PRWEB) November 27, 2014 ... Bringing You An Up-Close Look At This Year’s Entries ... Of An All-Inclusive Stay For Two At Their Resort, ... High Times events or L.A.-based Hempcon, The Emerald Cup ... definitive county fair draws much of California’s original cannabis ...
Breaking Medicine News(10 mins):Health News:A New Geolocation Mobile Application and was Featured on NewsWatch Television on October 30, 2014 2Health News:New Albany Dental Practice Offers Oral Health Tips For Thanksgiving 2Health News:New Albany Dental Practice Offers Oral Health Tips For Thanksgiving 3Health News:New Albany Dental Practice Offers Oral Health Tips For Thanksgiving 4Health News:Aria Health Prepares and Donates 200 Thanksgiving Dinners 2Health News:Verde Pointe Dental Associates Hosts 2014 Ugly Holiday Sweater Contest 2Health News:Verde Pointe Dental Associates Hosts 2014 Ugly Holiday Sweater Contest 3Health News:The Emerald Cup 2014 Competition Partners | CannCast – Bringing You An Up-Close Look At This Year’s Entries and SKUNK Magazine Proudly Sponsoring This Year's Grand Prize 2Health News:The Emerald Cup 2014 Competition Partners | CannCast – Bringing You An Up-Close Look At This Year’s Entries and SKUNK Magazine Proudly Sponsoring This Year's Grand Prize 3Health News:The Emerald Cup 2014 Competition Partners | CannCast – Bringing You An Up-Close Look At This Year’s Entries and SKUNK Magazine Proudly Sponsoring This Year's Grand Prize 4
... A new link between obesity and type 2 diabetes found ... drug treatments for diabetes, University of Michigan Health System research ... insulin, which lowers blood glucose levels. But the U-M study ... opposite effect of insulin by raising blood glucose levels ...
... the non-FDA-approved use of antipsychotic drugs may be a way ... according to a Penn State College of Medicine study. ... medications in data from 2003 did not have schizophrenia or ... for use. Use of medication for treatments that is not ...
... that the strongest risk factors for atrial fibrillation in both ... While hypertension is a well known risk factor for AF, ... later occurrence of AF has not been documented earlier". ... and is a major risk factor for heart failure (risk ...
... a common chemotherapy drug before bone tumors took root ... introduced, to seed and grow more easily. ... cancers metastasize to bone, and could eventually result in ... Department of Periodontics and Oral Medicine at the ...
... May 14 (HealthDay News) -- People with HIV/AIDS are four ... those in the general population, a new study finds. ... according to researchers from the University of California, San Francisco ... cardiac death, the heart suddenly and unexpectedly stops beating. ...
... A new study that looked at the hunger trends ... in the United States, more than one in seven, face ... "In 2005, we reported that one in nine seniors ... Illinois associate professor of agricultural and consumer economics and executive ...
Cached Medicine News:Health News:New inflammation hormone link may pave way to study new drugs for Type 2 diabetes 2Health News:Reducing off-label use of antipsychotic medications may save money 2Health News:Reducing off-label use of antipsychotic medications may save money 3Health News:Palpitations are predictive of future atrial fibrillation 2Health News:Palpitations are predictive of future atrial fibrillation 3Health News:'Fertilizing' bone marrow helps answer why some cancers spread to bones 2Health News:People With HIV at Higher Odds of Sudden Cardiac Death 2Health News:Great recession reflux amounts to more hunger among seniors 2
(Date:11/26/2014)...  Thoratec Corporation (NASDAQ: THOR ), a ... save, support and restore failing hearts, said today it ... On Tuesday, December 2, the company will participate ... Conference.  D. Keith Grossman , President and Chief ... beginning at 11:30 a.m., Eastern Standard Time (8:30 a.m., ...
(Date:11/26/2014)... , Nov. 26, 2014  Genomic Health, Inc. (Nasdaq: ... , Chairman, Chief Executive Officer and President, will participate ... Conference at The New York Palace Hotel in ... at 11:30 am Eastern Time (ET). To ... conference call, go to the  Investor Relations  section of ...
(Date:11/26/2014)... , November 26, 2014 Investor-Edge has ... VVUS ), Horizon Pharma PLC (NASDAQ: HZNP ... Johnson (NYSE: JNJ ), and Theravance Inc. (NASDAQ: ... can be accessed at: http://investor-edge.com/register . On ... up 0.07%, the Dow Jones Industrial Average edged 0.02% lower, ...
Breaking Medicine Technology:Thoratec Announces Presentations At Investor Conferences For December 2014 2Genomic Health to Present at the 26th Annual Piper Jaffray Healthcare Conference 2Genomic Health to Present at the 26th Annual Piper Jaffray Healthcare Conference 3Pharma Stocks Highlight - VIVUS, Horizon Pharma, Endocyte, Johnson and Johnson, and Theravance 2Pharma Stocks Highlight - VIVUS, Horizon Pharma, Endocyte, Johnson and Johnson, and Theravance 3Pharma Stocks Highlight - VIVUS, Horizon Pharma, Endocyte, Johnson and Johnson, and Theravance 4Pharma Stocks Highlight - VIVUS, Horizon Pharma, Endocyte, Johnson and Johnson, and Theravance 5
... TUSTIN, Calif., Jan. 6, 2012 Radient Pharmaceuticals Corporation ... Vitro Diagnostic (IVD) cancer tests, today announced that ... will be launched with a print ad that ... throughout 2012.  These journals have high circulation among ...
... WAYNE, N.J., Jan. 6, 2012  Cascade Medical ... proprietary platelet-rich plasma (PRP) and platelet-rich fibrin matrix (PRFM) ... tissue and bone repair, announced the sale of their ... ConMed Linvatec for the worldwide orthopedic, dental, and wound ...
Cached Medicine Technology:Radient Pharmaceuticals Announces New Advertisement for Oncology Publications 2Cascade Medical Enterprises, LLC Announces the Sale of Their Orthopedic Business 2
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
... reference laboratory and a worldwide leader in ... an extensive test menu of highly complex ... anatomic pathology. Owned by the University of ... half of the nation's university teaching hospitals ...
Medicine Products: