Novel Approaches for Relating Genetic Variation to Function and Disease (R43/R44 Clinical Trial Not Allowed)

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Genome-wide association studies and other disease studies have identified many variants that are statistically associated with disease risk, disease protection, or other traits. However, such studies do not generally show which specific variants in genomic elements cause these effects, or how they result in differences in function. Similarly, genomic sequencing studies in clinical settings have identified many variants in healthy and diseased individuals. However, the pathogenicity of such variants is often unknown, leading to their classification as variants of uncertain significance (VUS), which makes clinical implementation difficult. This Program Announcement which has companion R21 and R01 Program Announcements aims to support the development of novel and generalizable commercialized approaches to study how genetic variants lead to differences in function and to study how such functional differences affect human health and disease processes or how this knowledge can be used clinically.

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