Developing genetic technology to figure out roughly how parts of the cell fit together, and to relate genomic variation to human disease
Current interests related to sequence variant interpretation:
- Generating complete 'lookup tables' of functional missense variation in human disease genes, to enable experimentally-confirmed variant interpretation immediately upon first clinical presentation. Our disease interests are broad, but there is a strong current focus on genes related to coronary heart disease.
- Systematically testing the impact of missense Mendelian disease variants on protein interactions.
- Exploring high-order complex traits using an 'engineered population' approach in both yeast and human cells.
Current interests related to protein interaction mapping:
Information on positions available in the Roth lab.
- En masse condition-dependent protein interaction screening technologies using next-generation sequencing of recombinant DNA barcodes.
- Developing large scale protein interaction assays capable of detecting dynamics on the 20 minute time scale.
- Exploiting deep mutational scans to better predict functional missense variation for all human disease proteins