Novel Approaches for Relating Genetic Variation to Function and Disease (R01 Clinical Trial Not Allowed)

archived

Genome-wide association studies have found many variants associated with disease risk, disease protection, or other traits. However, these studies generally identify many variants that are statistically associated with the trait, but do not show which variants in genomic elements cause these effects, or how they result in differences in function. Similarly, clinical genomic sequencing studies have identified many variants in healthy and diseased individuals, but the pathogenicity of such variants is usually unknown, leading to their classification as variants of uncertain significance (VUSs), which makes clinical implementation difficult. This program aims to support the development of generalizable approaches to study how genetic variants lead to differences in function, how such functional differences lead to disease processes, and how this knowledge can be used clinically.

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