Collaborator: Children’s National Research Institute
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Long-read genome sequencing resolves genetic cases missed by short-read sequencing
Presenting Author: Greta Pitsava, MD Take home point: Long-read genome sequencing allows detection of variants not detectable by short read sequencing. We present several cases identified by the UCI-GREGoR program where the clinically relevant variant was found through long read sequencing after a negative short read test. This includes structural varaints, variants within hard to align low…