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Long-read genome sequencing resolves genetic cases missed by short-read sequencing

Session:
#4069
Date:
Friday, Oct 17, 2025 2:30pm – 4:30pm
Conference:
ASHG 2025
Authors:
Erica Smith, Rachid Karam, PhD, Greta Pitsava, Krista Bluske, Ivan De Dios, Rebekah Barrick, Sami Belhadj, Miguel Almalvez, Arthur Ko, Lightning Auriga, Changrui Xiao, Emmanuèle C. Délot, Seth Berger, Eric Vilain
Collaborators:

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 complexity regions, and variants associated with epigenetic signatures.
Poster Abstract