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:7/24/2014)... YORK, NY (July 24, 2014) Scientists at ... Institute are one step closer to creating a ... a patient,s own cells. , For the ... (iPS) cells lines from skin samples of patients ... developed an accelerated protocol to induce these stem ...
(Date:7/24/2014)... of native animal species for food or commercial food ... factor in the decline of many species of primates ... that more than half of the species being consumed ... "By surveying not only the meat made available for ... the forest by hunters and brought to villages for ...
(Date:7/24/2014)... of 3.5 billion years of evolutionary trial and error, ... it may be reaching a tipping point. , In ... data published in Science , an international team ... animals is contributing to what appears to be the ... event. , Since 1500, more than 320 terrestrial vertebrates ...
Breaking Biology News(10 mins):NYSCF scientists one step closer to cell therapy for multiple sclerosis patients 2Stanford biologist warns of early stages of Earth's 6th mass extinction event 2Stanford biologist warns of early stages of Earth's 6th mass extinction event 3
... human evolution follows a progressive trajectory is one of ... is often expressed in popular media by showing cavemen ... a notable exception). But is this assumption correct? ... In a paper published in the ...
... stop the spread of a deadly fungus that is threatening ... a new mathematical model. , White-nose syndrome, which is estimated ... year period, is probably caused by a newly discovered cold-adapted ... WNS is passed from bat to bat and concludes that ...
... and warms the world,s oceans with carbon emissions, the harder ... That,s the blunt message from a major new study ... and global warming will combine with local impacts like overfishing ... when they are struggling to survive. Modelling by a ...
Cached Biology News:Earliest humans not so different from us, research suggests 2Earliest humans not so different from us, research suggests 3Culling can't control deadly bat disease 2Acid oceans demand greater reef care 2
(Date:7/25/2014)... 2014 At the request of the ... 60-day extension for the public comment period (Docket No. ... Model Aircraft established by Congress as part of the ... extension establishes the new deadline for comments as September ... Transportation/FAA notice published in the Federal Register on July ...
(Date:7/24/2014)... York, NY - July 24, 2014 -- Keryx Biopharmaceuticals, ... from the long-term, randomized, active control Phase 3 study ... iron-based phosphate binder, for the treatment of hyperphosphatemia in ... PERFECTED study (PhosphatE binding and iRon delivery with FErric ... Journal of the American Society of Nephrology ...
(Date:7/24/2014)... Gain recognition for leadership and ... the biotech industry. Nominations are now being accepted ... you by the Bio Supply Management Alliance ... management professionals for the past 7 years. , ... Biotech industry – Manufacturers, Service Providers, Material Suppliers, ...
(Date:7/24/2014)... Calif. , July 24, 2014  Asterias ... in the emerging field of regenerative medicine, announced ... of a presentation to investors on Tuesday, July ... PDT.  The presentation will include an overview of ... access the webcast, visit http://www.ustream.tv/channel/asterias-biotherapeutics at ...
Breaking Biology Technology:FAA Grants Comment Extension at the Request of AMA 2Zerenex (ferric citrate) long-term Phase 3 study results published in JASN 2Zerenex (ferric citrate) long-term Phase 3 study results published in JASN 3Zerenex (ferric citrate) long-term Phase 3 study results published in JASN 4Call for Submission: BSMA’s Supply Chain Management Innovation Awards 2Call for Submission: BSMA’s Supply Chain Management Innovation Awards 3Asterias Biotherapeutics Announces Live Investor Webcast 2Asterias Biotherapeutics Announces Live Investor Webcast 3Asterias Biotherapeutics Announces Live Investor Webcast 4
... a multitasking application capable of dynamic scheduling, ... operation of lab automation workcells easy for ... modification by programmers. • Users ... flowchart. If you can build a flowchart, ...
... The Eclipse C1 Plus is a ... highest-quality digital imaging with an ultra-compact and ... of the C1 Plusboost optical performance to ... acquisition.The system alsoincludes support for X and ...
No-Weigh Dithiothreitol (DTT) ,7.7 mg DTT/Tube x 48 tubes...
... digital microscope and camera system that does ... adjustment or software installation. Built on Nikon's ... simplicity and advanced technology for users of ... of a macro image and a micro ...
Biology Products: