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Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility by Moyra Smith

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5. Pathways, phenotypes, and phenocopies

The challenge of the 21st century for all scientific and engineering disciplines is understanding and managing complexity.

C. Aufray, D. Charron, L. Hood, 2010

Identifying a specific gene responsible for a genetic disease is cause for celebration because it opens the way for diagnostic testing and in-depth investigation of the molecular pathogenesis of disease. Through such studies, therapies may be developed.

From time to time, patients who present with symptoms and signs typical of a specific genetic disease fail to reveal changes in the genes known to cause that disease. These patients may have a different disease that is referred to as a phenocopy of the known disease because the phenotypes are ...

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