Article
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Diabetes care - 1 Feb 2014
Bonnefond Amélie, Philippe Julien, Durand Emmanuelle, Muller Jean, Saeed Sadia, Arslan Muhammad, Martínez Rosa, De Graeve Franck, Dhennin Véronique, Rabearivelo Iandry, Polak Michel, Cavé Hélène, Castaño Luis, Vaxillaire Martine, Mandel Jean-Louis, Sand Olivier, Froguel Philippe
Abstract excerpt
OBJECTIVE: Accurate etiological diagnosis of monogenic forms of diabetes and obesity is useful as it can lead to marked improvements in patient care and genetic counseling. Currently, molecular diagnosis based on Sanger sequencing is restricted to only a few genes, as this technology is expensive, time-consuming, and labor-intensive. High-throughput next-generation sequencing (NGS) provides an opportunity to...
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