Our goal is to provide a platform for functional genomics research and validation to improve diagnosis in Mendelian disease. We believe that the systematic application of promising new genomics technologies coupled with innovative computational approaches will foster discovery. Research participants who remain undiagnosed after exome sequencing will undergo short read and long read genome sequencing, transcriptome sequencing, methylation assays, metabolomics and/or lipidomics assays. Novel causal variants and genes will be validated through state-of-the-art targeted approaches including massively parallel reporter assays, induced-pluripotent stem cell assays and CRISPR engineered cellular and mouse models. Our approach will help elucidate the most effective ‘omics’ strategies to improve Mendelian disease discovery and diagnosis.
Matthew Wheeler (GSS, Stanford University) Jon Bernstein (GSS, Stanford University)
Stephen Montgomery (GSS, Stanford University)