Experimental Validation

Validation of computational predictions of the clinical significance of genetic variants is an essential step in determining the clinical utility of these approaches. For many variants, experimental functional studies will play an important role in complementing limited available clinical data on pathogenicity.

We are using a number of molecular tools to experimentally validate the predicted functional effects of genetic variants. These include CRISPR/Cas9-based genome editing to introduce mutations in relevant cell types, as well as the development of high-throughput assays for functional testing of variants.