Navigation Links
New database to speed genetic discoveries
Date:3/18/2013

Hamosh explains, a geneticist trying to diagnose the cause of an inherited disease would have made an educated guess based on the patient's signs and symptoms about which gene might be at fault, and ordered a test of that gene. If the test came back negative for a mutation, she would order a test of a different gene, and so on. But whole-exome sequencing, in which about 90% of a person's genes are sequenced at one time, has been growing steadily cheaper, and it is this tool that the Centers will use to capture genetic sequencing information (whole-genome sequencing is the next step, but it remains too expensive for many uses, Hamosh notes, as it includes all of a person's DNA, most of which contains no genes).

However, making sense of the deluge of data yielded by whole-exome sequencing presents its own challenges. "The average person has tens of thousands of variations from the standard genetic sequence," Hamosh explains, "and we don't know what most of those variations mean." To parse these variations, she says, "one of the things that needs to change is that the lab doing the testing needs to have the whole phenotype, from head to toe." Researchers will then be better equipped to figure out which variations may or may not be relevant to a patient's illness. Another advantage of the database is that it enables colleagues at distant locations such as Baylor and Johns Hopkins to securely access the information and collaborate. Hamosh notes that the database enables different users to be afforded different levels of access for example, a health provider will only be able to see the information he or she has entered and that information is deidentified to protect patient privacy. In addition, providers must have patients' consent to be included in PhenoDB.

PhenoDB would be useful for any research project that seeks to match genomic information with its phenotypic effects, Hamosh says, and with that in mind, the Baylor-Hopkins Center for Mendelia
'/>"/>

Contact: Shawna Williams
shawna@jhmi.edu
410-955-8236
Johns Hopkins Medicine
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. CNIO researchers develop new databases for understanding the human genome
2. NREL updates solar radiation database
3. Privately owned genetic databases may hinder diagnosis and bar the way to the arrival of personalized medicine
4. Navigating the Patent Minefield of Embryonic Stem Cell Product Development; Free Kindle Fire Tablet and Research Database with Purchase
5. New databases harvest a rich bounty of information on crop plant metabolism
6. U-M Health and Retirement Study adds genetic data to NIH database
7. Research shows how Mallard dye fills need for speed
8. TAG Optics ultra-high speed variable focus TAG Lens 2.0 wins Prism Award
9. New marker of drug response may speed pace of lung cancer prevention trials
10. Total donates high-speed computer cluster to UH
11. High-speed video and artificial flowers shed light on mysteries of hummingbird-pollinated flowers
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/30/2014)... JOSE, Calif. , July 30, 2014 /PRNewswire/ ... partnership with the United States Air Force Research ... proposed by Binghamton University ... human performance monitoring (HPM). The $425,000 project, with ... electronics packaging firm i3 Electronics, Inc. ( ...
(Date:7/30/2014)... DCToday scientists unveiled the first high-resolution map of ... entire country of Per. The new and improved ... sea change for future market-based carbon economies. ... high ecological diversity and it provides the critical ... for conservation, land use, and enforcement purposes. The ...
(Date:7/30/2014)... paper published online today in the journal Scientific ... Evan Kodra and Auroop Ganguly found that while global ... in temperature extremes. For instance, while each year,s average ... will also tend to fall within a wider range ... currently being observed. This means that even as overall ...
Breaking Biology News(10 mins):Nano-Bio Manufacturing Consortium Awards Funding to Binghamton University for Development of Electronics and Biometric Sensor Platforms 2Nano-Bio Manufacturing Consortium Awards Funding to Binghamton University for Development of Electronics and Biometric Sensor Platforms 3Peru's carbon quantified: Economic and conservation boon 2Peru's carbon quantified: Economic and conservation boon 3Big data confirms climate extremes are here to stay 2
... be hazardous for moose and men. According to estimates, millions ... America and Europe each year. Moose, in particular, venture to ... deicing. Because moose are the largest animal in ... their salt cravings can pose significant risks to human and ...
... The results presented in this book cover all from ... to humans, to case studies of the development of ... increasing populations for forests, and the beavers, relationship with ... water. Several chapters deal with the high degree ...
... The potential of microscopic organ-on-a-chip devices that mimic ... engineers can model the effects of therapies more accurately, ... Imperial College London this week. Professor Don ... Engineering at Harvard University, will deliver the inaugural Bagrit ...
Cached Biology News:Of moose and men 2Media invitation: Pioneer of organ-on-a-chip technology to speak at Imperial College London 2
(Date:7/30/2014)... With the accelerated aging of the ... as well as the improved medical care facilities ... industry has been developing quickly, especially in vitro ... in vitro diagnostics market size reached RMB22.98 billion, ... diagnostic reagents. , Read complete report with ...
(Date:7/30/2014)... July 30, 2014. Applied DNA ... that provides DNA-based authentication and security solutions and services, ... of Life Sciences, a newly created position, with a ... will lead APDN’s drive to build its business in ... healthcare customers, provide guidance to APDN’s R&D efforts, and ...
(Date:7/30/2014)... BCC Research ( http://www.bccresearch.com ) reveals in ... Industrial Applications , the global market for industrial enzymes ... 2018, registering a five-year compound annual growth rate (CAGR) ... in the detergent enzyme segment with a CAGR of ... influenced almost every sector of industrial activity, ranging from ...
(Date:7/30/2014)... 2014 Vycom announces the addition of ... to meet Factory Mutual (FM) 4910 fire propagation and ... wet benches, process tools, fume hoods, furniture and cabinetry. ... to semiconductor wafers used in electronic chip manufacturing. ... solution with excellent workability and superior aesthetics. It is ...
Breaking Biology Technology:China Diagnostic Reagent Industry Report, 2013-2016 | Researchmoz 2China Diagnostic Reagent Industry Report, 2013-2016 | Researchmoz 3Dr. Michael E. Hogan, Ph.D., Joins Applied DNA Sciences as Vice President, Life Sciences 2Dr. Michael E. Hogan, Ph.D., Joins Applied DNA Sciences as Vice President, Life Sciences 3Global Market for Industrial Enzymes to Reach Nearly $7.1 Billion by 2018; Detergent Enzyme Market to Record Maximum Growth 2Global Market for Industrial Enzymes to Reach Nearly $7.1 Billion by 2018; Detergent Enzyme Market to Record Maximum Growth 3Vycom Announces Flametec® Thermax PVC (FM4910 Listed) For a Variety of Clean Room Applications with Excellent Workability and Aesthetics 2
... and his team are researching nano-scale cantilevers that have the ... gases in the air. Put them into a small handheld ... in battle, in industry, in health care and even at ... do this work has been something we,ve only seen so ...
... announced today the successful closure of its Starfish ... capital fundraising in,Australia. The fund will invest in ... of this fundraising is an endorsement of Starfish ... the development of,innovative companies that, with the right ...
... Calif., Nov. 12 Telik, Inc.,(Nasdaq: TELK ... TRAP(R) drug,discovery technology to investigators at the Hospital ... studies the mechanisms underlying,musculoskeletal and autoimmune diseases to ... use Telik,s TRAP technology to,discover novel compounds that ...
Cached Biology Technology:Clemson researchers advance nanoscale electromechanical sensors 2Starfish Ventures Closes Australia's Largest Venture Capital Fund With $185 Million Tech Fund 2Telik Announces New TRAP Drug Discovery Agreement 2