Genome sequencing 2011

Author: J. A. Veltman
Submitted: Monday 5th of September 2011 01:51:18 PM
Submitted by: egf
Educational levels: qc1, qc2, qc3


There is considerable variation between the genetic code of two individuals, both at the single nucleotide and at the structural level. Identifying and studying the consequences of these variations, a core activity in human genetics research, is driven by technological innovations. Currently we are in the midst of one of the greatest technological revolutions in genomics. Novel DNA sequencing methods are dramatically increasing sequencing throughput to a level where it is soon possible to rapidly sequence an individual genome for an affordable price. If properly established, whole genome sequencing will have a major impact on the entire field of medicine; All genomic variation that can be linked to disease is detectable in a single experiment! In this presentation I will introduce next generation sequencing technology, discuss its development and advantages over traditional sequencing technologies, illustrate the use of this technology for rapid identification of disease causing genes in rare and common disease and discuss briefly its potential for implementation in the clinic.


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J. A. Veltman. Genome sequencing 2011. EUROGENE portal. September 2011. online:

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