DNA variation in Norway

To determine the genetic causes of phenotypes, it is necessary to characterise the actual genotypic variation within linkage distance of the causative genetic code. Genetic variation differs between populations. Earlier efforts to utilise DNA variation information available from international resources for the Norwegian population indicate that less than half of identified points of variation available from international sources will in fact be present in the Norwegian population, and are often of limited value because of low allele frequencies. Thus, there is a need to provide adequate information and tools to the scientific community to facilitate the identification of the gene underlying unidentified single gene based diseases, as well as multiple genes in complex trait phenotypes, with their relative contributions. Specifically, we aim to use polymorphic markers, methods and reagents at a resolution of at least 5 cM (or finer, depending on aggregate available funding) evenly spaced along the genome, to estimate their respective allele frequencies. As the human genome contains a total of approximately 3600 cM1, this implies identifying around 750 informative markers. Optimally, these markers should be informative so that the least frequent allele is present in approximately one third of the population. This resource will represent a major step forward for most clinically relevant questions addressable in both classical and high throughput modalities. At this point, we have developed a web page for information gained through the project until now.