An informatics approach to analyzing the incidentalome.

ABSTRACT:

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 findings.

Methods

We categorized 2,016 genes linked with Mendelian diseases into "bins" based on clinical utility and validity, and used a computational algorithm to analyze 80 whole-genome sequences in order to explore the use of such an approach in a simulated real-world setting.

Results

The algorithm effectively reduced the number of variants requiring human rev

SUBMITTER: Berg JS 

PROVIDER: S-EPMC3538953 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature