Article
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.
EBioMedicine - 1 Jun 2026
Bennett Jasmin J, Laver Thomas W, Männistö Jonna M E, Houghton Jayne A L, De Franco Elisa, Kalyon Oguzhan, Wright Sabrina, Johnson Anna-Marie, De Leon Diva D, Globa Evgenia, Kummer Sebastian, Banerjee Indraneel, Dastamani Antonia, Wakeling Matthew N, Johnson Matthew B, Flanagan Sarah E
Abstract excerpt
BACKGROUND: A substantial proportion of individuals with a well-defined monogenic disorder remain without a genetic diagnosis. Low-level mosaic pathogenic variants are recognised as an underappreciated cause of monogenic disease but are technically challenging to detect, particularly in organ-specific conditions when affected tissue is inaccessible. METHODS: We systematically investigated low-level mosaic...
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