Whole Exome Sequencing (WES)

Development of an inexpensive, reliable and sensitive whole-exome sequencing (WES)

Since 2008, we have sought to produce exome sequencing protocols with the best quality for the identification of rare mutations, namely a WES with high depth of coverage (> 100×) and with a limitation of gaps of sequencing (which directly depends on hybridization capture brand and know-how).

This strategy allowed us to rapidly demonstrate that a WES of good quality should replace Sanger sequencing for the molecular diagnosis of monogenic disorders in a near future.

This study was published in PLoS One. : « Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome »

Furthermore, this strategy allowed us to identify novel mutations/genes involved into monogenic forms of diabetes: