Article
An informatics approach to analyzing the incidentalome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2013
Berg Jonathan S, Adams Michael, Nassar Nassib, Bizon Chris, Lee Kristy, Schmitt Charles P, Wilhelmsen Kirk C, Evans James P
Abstract excerpt
PURPOSE: Next-generation sequencing has transformed genetic research and is poised to revolutionize clinical diagnosis. However, the vast amount of data and inevitable discovery of incidental findings require novel analytic approaches. We therefore implemented for the first time a strategy that utilizes an a priori structured framework and a conservative threshold for selecting clinically relevant incidental...
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