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WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.

Computers in biology and medicine - 1 Jan 2016

Ye Zhan, Kadolph Christopher, Strenn Robert, Wall Daniel, McPherson Elizabeth, Lin Simon

Abstract excerpt

BACKGROUND: Identification and evaluation of incidental findings in patients following whole exome (WGS) or whole genome sequencing (WGS) is challenging for both practicing physicians and researchers. The American College of Medical Genetics and Genomics (ACMG) recently recommended a list of reportable incidental genetic findings. However, no informatics tools are currently available to support evaluation of...

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PMID: 25890833
DOI: 10.1016/j.compbiomed.2015.03.028
PMCID: PMC4598261

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