The Genome of the Netherlands: design, and project goals

D.I. Boomsma, C. Wijmenga, P.E. Slagboom, M. Swertz, L.C. Karssen, A. Abdellaoui, K. Ye, V. Guryev, M. Vermaat, F. Dijk, L.C. Francioli, J.J. Hottenga, J.F.J. Laros, Q. Li, Y. Li., H. Cao, R. Chen, Y. Du, N. Li, S. CaoJ. van Setten, A. Menelaou, S.L. Pulit, J.Y. Hehir-Kwa, M. Beekman, C.C. Elbers, H. Byelas, A.J. de Craen, P. Deelen, M. Dijkstra, J.T. den Dunnen, P. de Knijff, J.J. Houwing-Duistermaat, V. Koval, K. Estrada, A. Hofman, A. Kanterakis, D. van Enckevort, H. Mai, V.M. Kattenberg, E.M. van Leeuwen, P.B.T. Neerincx, B. Oostra, F. Rivadeneira, H.E.D. Suchiman, A.G. Uitterlinden, G. Willemsen, B.H. Wolffenbuttel, J. Wang, P.I.W. Bakker, G.J. van Ommen, C.M. van Duijn

Research output: Contribution to JournalArticleAcademicpeer-review

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. © 2014 Macmillan Publishers Limited All rights reserved.
Original languageEnglish
Pages (from-to)221-227
Number of pages7
JournalEuropean Journal of Human Genetics
Volume22
Issue number2
DOIs
Publication statusPublished - 2014

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    Boomsma, D. I., Wijmenga, C., Slagboom, P. E., Swertz, M., Karssen, L. C., Abdellaoui, A., ... van Duijn, C. M. (2014). The Genome of the Netherlands: design, and project goals. European Journal of Human Genetics, 22(2), 221-227. https://doi.org/10.1038/ejhg.2013.118