Sequencing has enabled great progress into understanding the cause of genetic disorders in the past decade. However, many cases remain unsolved.
We believe that it is critical to deeply understand the underlying root cause of disease in order to move toward solving them. That’s why we use whole genome and whole exome next generation sequencing approaches to diagnose and stratify patients into disease subtypes. Additionally, we can couple sequencing results with transcriptomics and other deep cellular phenotyping. In order to understand the most complex disorders, you need the best data and tools.