Next Generation DNA Sequencing - Dr Joris Veltman

An Interview with Dr Joris Veltman, Department of Human Genetics, Radboud University Nijmegen Medical Centre - Next generation sequencing has tremendous potential for clinical applications. For most diagnostic applications a targeted analysis of known disease genes is preferred at present, as this will reduce the number of sequencing errors, facilitate functional interpretation of sequence variations, and overcome limitations in computational power as well as ethical restrictions. This application is of great value for complex monogenic disorders such as blindness, deafness and mental retardation that can be caused by hundreds of genes. In this presentation I will discuss the validation of an array-based sequence capture method for medical resequencing approaches in these disorders. I will also discuss implementation of this approach in the clinical arena, which will have a profound effect on the diagnosis and genetic counselling of patients with complex monogenic disorders, relevant to all diagnostic genetics laboratories. Dr Veltman will be speaking at the forthcoming Pharma IQ conference, Next-Generation DNA Sequencing, January 17-19 in London, England.