Electronic health records(EHRs) capture a large volume of
clinical and physiologic data, and present a valuable resource for research.
The “electronic Medical Records and Genomics” (eMERGE) Network was organized by
the National Human Genome Research Institute (NHGRI) in 2007 to develop,
disseminate, and apply approaches to combine DNA biorepositories with
electronic medical record(EMR) systems for large-scale, high-throughput genetic
research with the ultimate goal of returning genomic testing results to
patients in a clinical care setting.
To accomplish these goals in the eMERGE Network
an important first step is to develop robust algorithms, so called
“ePhenotyping” tools, to identify cases and controls directly from the EHR for
studies on specific diseases and traits. eMERGE ePhenotypes are developed byone or more primary sites, validated at secondary sites and verified at all
other sites that implement them. The results of this rigorous development
effort are accurate, robust algorithms that may be used at other sites outside
the eMERGE Network.
An abdominal aortic aneurysm (AAA) is a chronic progressively
expanding dilatation of the abdominal aorta below the renal arteries and above
the iliac artery bifurcation. The Society of Vascular Surgery guidelines define
an AAA as a dilatation greater than 3 cm in diameter. Most dilatations expand
to exceed the threshold over time and there is an increased risk of rupture
with catastrophic consequences when the diameter exceeds 5.5 cm.
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