Jay Shendure
Associate Professor of Genome Sciences
University of Washington
New Computational and Experimental Approaches to Variant Interpretation
I will describe efforts from my group and collaborators to develop an objective framework for integrating diverse genome annotations to a single, universally computable metric for estimating variant pathogenicity. I will also describe our ongoing work to develop experimental methods for measuring the functional effects of very large numbers of genomic variants in single experiments, i.e. massively parallel reporter assays (MPRA) and saturation genome editing (SGE).
