Features | Partner Sites | Information | LinkXpress
Sign In
GLOBETECH PUBLISHING
JIB
GLOBETECH PUBLISHING

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



comments powered by Disqus

Channels

Genomics/Proteomics

view channel
Image: This micrograph depicts the presence of aerobic Gram-negative Neisseria meningitidis diplococcal bacteria; magnification 1150x (Photo courtesy of the CDC - US Centers for Disease Control and Prevention).

Infection by Meningitis Bacteria Depends on Dimerization State of Certain Host Cell Proteins

A team of molecular microbiologists has untangled the complex three-way interaction between the non-integrin laminin receptor (LAMR1), galectin-3 (Gal-2), and the pathogenic bacterium Neisseria meningitidis.... Read more

Drug Discovery

view channel

Molecule in Green Tea Used as Carrier for Anticancer Proteins

A molecule that is a key ingredient in green tea can be employed as a carrier for anticancer proteins, forming a stable and effective therapeutic nanocomplex. This new discovery could help to construct better drug-delivery systems. Some cancer treatments depend on medication comprising the therapeutic drug and a carrier... Read more

Lab Technologies

view channel
Image: Yale West Campus is organized into research institutes and core facilities — all designed to promote collaboration and interdisciplinary dialogue (Photo courtesy of Yale University).

American and European Partners Establish a Microscopy Center of Excellence

A prominent American university has announced a partnership agreement with a major European producer of microscopes and imaging tools that will establish a center for the use of cutting-edge imaging technologies... Read more

Business

view channel

Interest in Commercial Applications for Proteomics Continues to Grow

Increasing interest in the field of proteomics has led to a series of agreements between private proteomic companies and academic institutions as well as deals between pharmaceutical companies and novel proteomics innovator biotech companies. Proteomics is the study of the structure and function of proteins.... Read more
 
Copyright © 2000-2014 Globetech Media. All rights reserved.