The clinical interpretation of variants in Next-Gen Sequencing is a quickly evolving field. While the body of knowledge is growing exponentially, experts have to derive sound clinical decisions leveraging an ever-expanding set of specialty databases, clinical publications, and algorithm that are designed to predict the impact of specific variants in the resulting protein.
The specific steps and considerations that need be taken into account are defined by the American College of Medical Genetics and Genomics. The guidelines were refined over time with a significant revision in 2015. In this eBook, I summarize the key concepts of these guidelines. We cover what defines a pathogenic respectively a benign variant. We go over scoring mechanisms that allow us to classify a variant clinically. Lastly, I discuss a few interesting cases of variants and their classifications. This eBook is designed to show how we are able to support this equally complex and tedious process with our clinical interpretation solution VSClinical.
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