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. 2014 Feb;22(2):221-7.
doi: 10.1038/ejhg.2013.118. Epub 2013 May 29.

The Genome of the Netherlands: design, and project goals

Dorret I Boomsma  1 , Cisca Wijmenga  2 , Eline P Slagboom  3 , Morris A Swertz  2 , Lennart C Karssen  4 , Abdel Abdellaoui  1 , Kai Ye  3 , Victor Guryev  5 , Martijn Vermaat  6 , Freerk van Dijk  2 , Laurent C Francioli  7 , Jouke Jan Hottenga  1 , Jeroen F J Laros  6 , Qibin Li  8 , Yingrui Li  8 , Hongzhi Cao  8 , Ruoyan Chen  8 , Yuanping Du  8 , Ning Li  9 , Sujie Cao  9 , Jessica van Setten  7 , Androniki Menelaou  7 , Sara L Pulit  7 , Jayne Y Hehir-Kwa  10 , Marian Beekman  11 , Clara C Elbers  7 , Heorhiy Byelas  2 , Anton J M de Craen  11 , Patrick Deelen  2 , Martijn Dijkstra  2 , Johan T den Dunnen  12 , Peter de Knijff  12 , Jeanine Houwing-Duistermaat  13 , Vyacheslav Koval  14 , Karol Estrada  14 , Albert Hofman  4 , Alexandros Kanterakis  2 , David van Enckevort  15 , Hailiang Mai  15 , Mathijs Kattenberg  1 , Elisabeth M van Leeuwen  4 , Pieter B T Neerincx  2 , Ben Oostra  16 , Fernanodo Rivadeneira  14 , Eka H D Suchiman  3 , Andre G Uitterlinden  14 , Gonneke Willemsen  1 , Bruce H Wolffenbuttel  17 , Jun Wang  18 , Paul I W de Bakker  7 , Gert-Jan van Ommen  19 , Cornelia M van Duijn  4
Affiliations

The Genome of the Netherlands: design, and project goals

Dorret I Boomsma et al. Eur J Hum Genet. 2014 Feb.

Abstract

Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with different types of molecular and phenotype data. 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 representative sample consisting of 250 trio-families from all provinces in the Netherlands, which aims to characterize DNA sequence variation in the Dutch population. The parent-offspring trios include adult individuals ranging in age from 19 to 87 years (mean=53 years; SD=16 years) from birth cohorts 1910-1994. 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 the available genome-wide association studies in Dutch and other cohorts to refine association signals and uncover population-specific variants. GoNL will create a catalog of human genetic variation in this sample that is uniquely characterized with respect to micro-geographic location and a wide range of phenotypes. The resource will be made available to the research and medical community to guide the interpretation of sequencing projects. The present paper summarizes the global characteristics of the project.

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Figures

Figure 1
Figure 1
The 12 provinces of the Netherlands, the 12th province (Flevoland) is a recent province (land reclaimed from water) and was not included as a separate sampling unit (Image by Wikimedia Commons user Alphathon).
Figure 2
Figure 2
Sampling schedule for the GoNL: four population-based biobanks contributed samples for sequencing at the BGI (Beijing Genomics Institute).
Figure 3
Figure 3
PCA results highlighting differences in genetic make-up across the Netherlands: the plots give PC1 versus PC2, and PC1 versus PC3.
See this image and copyright information in PMC

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