The Differences Between Whole Genome and Whole Exome in Diagnostics

In this study, we were able to diagnose nine infants based on whole genomic sequencing from variants in noncoding areas that would not have been picked up on whole exome. What we did learn, though, which I think is important and could be applied globally, is that, you know, panels remain limited in what they can detect. And so any one test, if you repeated it, repeated that same genome on another test may give you a different analysis interpretation or potentially diagnosis.