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The Genome of the Netherlands(GoNL)

Within the Netherlands a national network of biobanks has been established (BBMRI-NL) as a national node of the European Biobanking and Biomolecular Research Infrastructure BBMRI. Here, we describe the Genome of the Netherlands (GoNL), one of the projects within BBMRI-NL. GoNL is a whole-genome sequencing project in a sample from all provinces in the Netherlands, which aims to reveal most of the genetic variants within the Dutch population. Sequencing was done on blood-derived DNA from uncultured cells and accomplished coverage was 14-15x. The family-based design represents a unique resource to assess the frequency of regional variants, accurately reconstruct haplotypes by family based phasing, characterize short indels and complex structural variants, and establish the rate of de novo mutational events. GoNL will also serve as a reference panel for imputation in Dutch and other cohorts to refine association signals and uncover populationspecific variants. GoNL will create a catalog of human genetic variation in this sample, uniquely characterized with respect to micro-geographic location The resource will be made available to the research and medical community. The Genome of the Netherlands (GoNL)