| PI | |
|---|---|
| Description |
Quantitative, intuitive functional data for human missense variant interpretation 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 |
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