As whole genome sequencing begins to gain acceptance in clinical practice, most regional centers must rely on external reference laboratories to provide sequencing and interpretive services. We describe our institution's experience with implementation of whole genome sequencing with structural variant detection for large, targeted panels and whole exome analyses. By leveraging direct relationships between our laboratory and clinicians, this approach facilitates efficient molecular diagnoses for our patients.
Matthew Bower, MS, LGC
Licensed Genetic Counselor
University of Minnesota Medical Center, Fairview
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