Workshop: Sequencing entire genomes, the future is now

A genome-wide association study (GWAS) aims at the identification of genetic associations with observable traits (such as blood pressure or weight), or why some people get a disease or a certain condition. These genetic factors that influence health and disease are revealed by looking at the genetic variation across the human genome. Such studies have revealed many disease genes for common diseases and the results point towards common mutations that only slightly contribute to these common diseases. In contrast, multiple rare variants with a large impact on disease risk may also contribute to common disease. These mutations are mostly recently developed and have a low occurrence frequency. Detection of these rare variants will not be possible by genome-wide association studies. To identify these mutations an extensive sequence analysis (i.e. medical or deep sequencing) is required.

It is anticipated that each individual contains at least 500,000 private SNPs (single nucleotide polymorphisms) and only recently a new generation of sequencing machines has become available that allows large-scale sequencing at low costs. The key to these new systems is the novel sequencing chemistry of sequencing billions of DNA molecules simultaneously. Hence, such technology allows the accurate identification of 1 billion of bases of sequence in a single run with low costs.

In this workshop we will discuss the current possibilities of this new sequencing technology that soon will become available in our department.