The University of Arizona

Pathogenic Variants and Genetic Modifiers

Pathogenic Variants and Genetic Modifiers

Series: Quantitative Biology Colloquium
Location: Math 402
Presenter: Michael F. Hammer, Genetics Core, Director, University of Arizona

The clinical utility of molecular genetic testing relies on accurate and comprehensive knowledge about the relationships between genes/variants and diseases/symptoms. Correctly interpreting the clinical significance of detected variants continues to be a constant challenge for molecular diagnostic practice. Challenges remain in cases where there is a consensus based on in silico predictors and even validation that the same variants is found in a patient(s) with similar clinical symptoms. One reason for this uncertainty is that single variants do not act alone: interaction among a host of environmental and genetic factors may modify the pathogenic effect of particular variants in different individuals.

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