Partner Group: Dudley - Pacific Northwest Research Institute (Research Grant awardee)
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| Description |
Project Dates: 4/1/2024 - 3/31/2026, after which she was approved for continuing partner membership until the group was offboarded on 9/3/2026 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. Group Members:
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Inactive
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