Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA
Jasmin J Bennett, Thomas W. Laver, Jonna M. E. Männistö, Jayne Houghton, Elisa De Franco, Oğuzhan Kalyon, Sabrina Wright, Anna-Marie Johnson, Diva D. De León, Evgenia Globa, Sebastian Kummer, Indraneel Banerjee, Antonia Dastamani, Teoman Akçay, Doha S. Alhomaidah, , Sarah Elizabeth Flanagan
This study detects low-level mosaic variants in blood DNA from individuals with congenital hyperinsulinism using tNGS and confirms them with ddPCR.
EBioMedicine · May 25, 2026Peer-reviewedGenetic & Genomic Medicine