Applying Prior Knowledge To Genome-wide Association Studies

Main Category: Genetics
Article Date: 25 Mar 2008 - 1:00 PDT

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Genome-wide association studies are an important early step in the identification of genetic markers associated with disease and disorders. A limitation of current analysis methods is that all candidate markers are considered equal in their potential to be involved in the disease, when in actuality, some markers might be more likely to play a role in disease than others.

By taking into consideration preexisting information about allele association and gene function, the statistical power of association studies could be significantly improved.

In this work, University of California, Los Angeles researcher Dr. Eleazar Eskin has derived a new method, Multi-threshold Association Study Analysis, which makes use of prior knowledge about markers and gene function that has been underutilized in association studies.

"This paper presents a method for incorporating this information into genetic association studies which can increase their ability to discover genes involved in disease," describes Eskin. "As efforts such as the ENCODE project mature, which attempt to predict the function of every region of the human genome, a tremendous amount of this type of information is becoming available."

Eskin, E.
"Increasing power in association studies by using linkage disequilibrium structure and molecular function as prior information."
Genome Res. doi:10.1101/gr.072785.107.
Click here to view abstract online

About Genome Research:

Genome Research is an international, monthly, peer-reviewed journal published by Cold Spring Harbor Laboratory Press. Launched in 1995, it is one of the five most highly cited primary research journals in genetics and genomics.
http://www.genome.org

About Cold Spring Harbor Laboratory Press

Cold Spring Harbor Laboratory Press is an internationally renowned publisher of books, journals, and electronic media located on Long Island, New York. It is a division of Cold Spring Harbor Laboratory, an innovator in life science research and the education of scientists, students, and the public.
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