| PI | |
|---|---|
| Description |
Project Dates: 4/1/2024 - 3/31/2026 Title: Quantitative, intuitive functional data for human missense variant interpretation Project Description: Model organisms, including yeast, are an important part of the ecosystem of human disease research. The sequence, structure, and function of orthologous proteins are often so conserved that a human protein coding sequence can functionally replace (complement) its yeast orthologs in vivo. We have a generalizable approach for assessing the functional impact of missense variants in human genes with a highly conserved yeast ortholog at scale. We will develop and perform functional assays for missense variants in human genes under investigation by GREGoR Consortium members. |
| Date approved |
|
| Status |
Active
|
