Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.

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Authors
De Franco, Elisa
Ellard, Sian
Journal
Pediatric Clinics of North America
Type
Journal Article
Publisher
Elsevier
Rights
Archived with thanks to Pediatric clinics of North America
The use of targeted gene panels now allows the analysis of all the genes known to cause a disease in a single test. For neonatal diabetes, this has resulted in a paradigm shift with patients receiving a genetic diagnosis early and the genetic results guiding their clinical management. Exome and genome sequencing are powerful tools to identify novel genetic causes of known diseases. For neonatal diabetes, the use of these technologies has resulted in the identification of 2 novel disease genes (GATA6 and STAT3) and a novel regulatory element of PTF1A, in which mutations cause pancreatic agenesis.
Citation
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 2015, 62 (4):1037-53 Pediatr. Clin. North Am.
Note