Session # 4069F

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 complexity regions, and variants associated with epigenetic signatures.

• Authors: Greta Pitsava; Krista Bluske; Ivan De Dios; Rebekah Barrick; Sami Belhadj; Erica Smith; Miguel Almalvez; Arthur Ko; Lightning Auriga; Rachid Karam; Changrui Xiao; Emmanuèle C. Délot; Seth Berger; Eric Vilain
• Collaborators: Children's National Research Institute; University of California, Irvine
• Conference: ASHG 2025
• Date: Friday, Oct 17, 2025 2:30pm - 4:30pm