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:9/23/2014)... of animals and plants. The central problem in pattern ... a reliable manner to give specific spatial patterns of ... formation is a classic paradigm in developmental biology. Cell ... flag, is caused by a gradient of a signalling ... of the morphogen a "blue", "white" or "red" gene ...
(Date:9/23/2014)... SPRINGS, Florida , September 23, 2014 ... for innovative companies in tech sector position for significant investor ... products & services.  Companies in focus today are: NXT-ID, Inc. ... BABA ), Mobileye N.V. (NYSE: MBLY ... Robotics Ltd. (NASDAQ: RWLK) NXT-ID, Inc. (NASDAQ: ...
(Date:9/22/2014)... GAINESVILLE, Fla. --- Many native species have vanished ... University of Florida scientists have discovered how fossils ... , The key lies in organic materials found ... ancient ecosystems functioned, according to a new study ... the Journal of Herpetology . Pre-human island ...
Breaking Biology News(10 mins):Recreating the stripe patterns found in animals by engineering synthetic gene networks 2Latest Blockbuster IPOs and Up Listings for Global Tech Stocks Attracting Major Attention as Traders Focus on Key Economic Data Due this Week 2Latest Blockbuster IPOs and Up Listings for Global Tech Stocks Attracting Major Attention as Traders Focus on Key Economic Data Due this Week 3Latest Blockbuster IPOs and Up Listings for Global Tech Stocks Attracting Major Attention as Traders Focus on Key Economic Data Due this Week 4Latest Blockbuster IPOs and Up Listings for Global Tech Stocks Attracting Major Attention as Traders Focus on Key Economic Data Due this Week 5Latest Blockbuster IPOs and Up Listings for Global Tech Stocks Attracting Major Attention as Traders Focus on Key Economic Data Due this Week 6Latest Blockbuster IPOs and Up Listings for Global Tech Stocks Attracting Major Attention as Traders Focus on Key Economic Data Due this Week 7Answer to restoring lost island biodiversity found in fossils 2
... GABLES, FL. -- The key to understanding how future hurricanes ... native coastal forests lurks below the surface, according to a ... the familiar mangroves that line the coasts lie hardwood hammocks ... the soils., University of Miami (UM) Ecologist Donald L. DeAngelis, ...
... of Houston (UH) vision scientist has received a $1.85 ... to investigate whether his techniques are more effective than ... could lead to developing a way to earlier diagnose ... assistant professor of vision science and biomedical engineering, uses ...
... warming and instead reduce fossil-fuel use for the sake of ... from the University of Washington and one from the University ... current issue of the journal Nature (Jan. 26) ... trump the environment as a reason to curb the use ...
Cached Biology News:Living on the edge: An innovative model of mangrove-hammock boundaries in Florida 2Sharper imaging in glaucoma focus of $1.85 million NIH grant 2Sharper imaging in glaucoma focus of $1.85 million NIH grant 3Commentary in Nature: Can economy bear what oil prices have in store? 2Commentary in Nature: Can economy bear what oil prices have in store? 3
(Date:9/23/2014)... NY (PRWEB) September 23, 2014 Marktech ... of deep ultra violet emitters in the 280 nm ... standard UV emitters which range from 280nm to 405nm. ... and water sanitation as well as curing. Mark Campito, ... line of special interest to manufacturers is that we ...
(Date:9/23/2014)... New spin-out from Cancer ... Innovation Capital and Johnson & Johnson Development Corporation  ... focused on harnessing the potential of circulating tumour ... treatment, today announced it has raised £4m in ... including Cambridge Innovation Capital and Johnson & Johnson ...
(Date:9/22/2014)... , September 22, 2014 ... announced the addition of the "Global Biotechnology ...      (Logo: http://photos.prnewswire.com/prnh/20130307/600769) Biotechnology ... added to a system to detect and examine ... are generally used in laboratories to prepare, collect, ...
(Date:9/22/2014)... new star-shaped molecule made up of interlocking rings, which is ... , Known as a ,Star of David, molecule, scientists have ... a century and the team,s findings are published in the ... molecular triangles, entwined about each other three times into a ... is 114 atoms in length around the perimeter. The molecular ...
Breaking Biology Technology:Marktech Introduces its New Line of Deep UV Emitters 2Inivata Raises £4m to Realise the Potential of ctDNA Analysis to Improve Cancer Treatment Through Simple Blood Tests 2Inivata Raises £4m to Realise the Potential of ctDNA Analysis to Improve Cancer Treatment Through Simple Blood Tests 3Inivata Raises £4m to Realise the Potential of ctDNA Analysis to Improve Cancer Treatment Through Simple Blood Tests 4Global Biotechnology Reagents Market 2014-2018: Key Vendors are Agilent, BD Biosciences, Bio-Rad, F. Hoffmann-La Roche, Sigma-Aldrich and Thermo Fisher 2Global Biotechnology Reagents Market 2014-2018: Key Vendors are Agilent, BD Biosciences, Bio-Rad, F. Hoffmann-La Roche, Sigma-Aldrich and Thermo Fisher 3
... N.J., June 27 Wyeth (NYSE: WYE ) ... Executive,Officer, has assumed the additional position of Chairman of ... a previously announced election by the,Company,s Board of Directors, ... in April 2006 when Mr. Poussot was promoted to ...
... and Received over $235 Million, SOUTH SAN FRANCISCO, ... announced today that the company and,GlaxoSmithKline, Inc. (NYSE: ... conclusion on October 27, 2008, as scheduled. Under the,terms ... up to two of the,compounds in the collaboration for ...
... between 30 and 50 million people. In the infected ... distress syndrome (ARDS). This fatal condition is a massive ... severely damaged. ARDS can be induced by various bacterial ... could be toxic gases that are inhaled or gastric ...
Cached Biology Technology:Exelixis and GlaxoSmithKline Agree to Successfully Conclude Six-Year Discovery and Development Collaboration 2Exelixis and GlaxoSmithKline Agree to Successfully Conclude Six-Year Discovery and Development Collaboration 3Exelixis and GlaxoSmithKline Agree to Successfully Conclude Six-Year Discovery and Development Collaboration 4Exelixis and GlaxoSmithKline Agree to Successfully Conclude Six-Year Discovery and Development Collaboration 5New strategies against bird flu 2