Features | Partner Sites | Information | LinkXpress
Sign In
GLOBETECH PUBLISHING LLC
PURITAN MEDICAL
Demo Company

EMRs Could Help Discover New Disease Associations

By BiotechDaily International staff writers
Posted on 10 Dec 2013
A new study is repurposing genetic data and electronic medical records (EMRs) to perform a large-scale validation of known disease associations.

Researchers at Vanderbilt University Medical Center (Vanderbilt, Nashville, TN, USA) and other institutions participating in the phenome-wide association study (PheWAS) used genotype data from 13,835 individuals of European descent, exhibiting 1,358 diseases collectively. The team then ran PheWAS on 3,144 single-nucleotide polymorphisms (SNPs), checking each SNP association with each of the 1,358 disease phenotypes. The researchers thus succeeded in identifying 63 previously unknown SNP-disease associations, the strongest of which related to skin diseases.

The researchers also created an online PheWAS catalog that may help understand the influence of many common genetic variants on human conditions. The researchers stressed that PheWAS would be unworkable without the eMERGE Network, of which Vanderbilt is the coordinating center. The network has expanded to nine sites with DNA samples from about 51,000 individuals linked to EMRs. The eMERGE Network is funded by the US National Human Genome Research Institute (Bethesda, MD, USA). The study was published on November 24, 2013, in Nature Biotechnology.

“This study broadly shows that we can take decades of off-the-shelf electronic medical record data, link them to DNA, and quickly validate known associations across hundreds of previous studies; at the same time, we can discover many new associations,” said lead author Josh Denny, MD, MSc, an associate professor of biomedical informatics and medicine. “Our method does not select any particular disease; it searches simultaneously for more than a thousand diseases. By doing this, we were able to show some genes that are associated several diseases or traits, while others are not.”

“If you think about the way genetic research has been done for the last 50 years or more, a lot of it was done through carefully planned clinical trials or observational cohorts,” added Dr. Denny. “This certainly does not supplant those in any way but provides a cost efficient, systematic method to look at many different diseases over time in a way that you really can't do easily with an observational cohort.”

Related Links:

Vanderbilt University Medical Center
eMERGE Network
US National Human Genome Research Institute



Channels

Drug Discovery

view channel
Image: Cancer cells were treated with a control (left) and the overstimulating compound MCB-613 (right) (Photo courtesy of Dr. Lei Wang, Baylor University College of Medicine).

Drug Candidate Propels Cancer Cells into Fatal Overdrive

A candidate drug that destroys cancer cells by stimulating them to produce more proteins than the cells can actually process was shown to kill a wide variety of cancer cells in culture and to inhibit tumor... Read more

Lab Technologies

view channel
Image: The Synergy Neo2 Multi-Mode Reader recently received Cisbio HTRF certification (Photo courtesy of BioTek Instruments Inc.).

High-Speed Multimode Microplate Reader Receives Homogenous Time-Resolved Fluorescence Certification

A new high-performance, high-speed microplate reader has received HTRF (homogenous time-resolved fluorescence) accreditation that certifies that it complies with standards for detection set by a major... Read more

Business

view channel

Innovative Microbial Diagnostics Developer Acquired by Biomedical Giant

A biotech company noted for its development of innovative products in the field of molecular microbiology diagnostics has been acquired by one of the world's largest biomedical corporations. GeneWEAVE BioSciences, Inc.(Los Gatos, CA, USA) and Roche (Basel, Switzerland) have announced that Roche will be purchasing the... Read more
 
Copyright © 2000-2015 Globetech Media. All rights reserved.