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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:
  • 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
Information on positions available in the Roth lab.

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Donnelly Centre for Cellular & Biomolecular Research, University of Toronto Samuel Lunenfeld Research Institute, Mt. Sinai Hospital