Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
Ellard, Sian; Lango Allen, H; De Franco, E; et al.Flanagan, SE; Hysenaj, G; Colclough, K; Houghton, JA; Shepherd, Maggie H.; Hattersley, Andrew T.; Weedon, Michael N.; Caswell, Richard
Date: 1 September 2013
Article
Journal
Diabetologia
Publisher
Springer Verlag
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Abstract
Current genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in ...
Current genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes.
Institute of Biomedical & Clinical Science
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