The Genome of the Netherlands: Design, and project goals

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

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

185 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)221-227
Aantal pagina's7
TijdschriftEuropean Journal of Human Genetics
Volume22
Nummer van het tijdschrift2
DOI's
StatusGepubliceerd - feb. 2014
Extern gepubliceerdJa

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