The genome of the Netherlands: design, and project goals

Boomsma, Dorret I., Wijmenga, Cisca, Slagboom, Eline P., Swertz, Morris A., Karssen, Lennart C., Abdellaoui, Abdel, Ye, Kai, Guryev, Victor, Vermaat, Martijn, van Dijk, Freerk, Francioli, Laurent C., Hottenga, Jouke Jan, Laros, Jeroen F. J., Li, Qibin, Li, Yingrui, Cao, Hongzhi, Chen, Ruoyan, Du, Yuanping, Li, Ning, Cao, Sujie, van Setten, Jessica, Menelaou, Androniki, Pulit, Sara L., Hehir-Kwa, Jayne Y., Beekman, Marian, Elbers, Clara C., Byelas, Heorhiy, de Craen, Anton J. M., Deelen, Patrick, Dijkstra, Martijn, den Dunnen, Johan T., de Knijff, Peter, Houwing-Duistermaat, Jeanine, Koval, Vyacheslav, Estrada, Karol, Hofman, Albert, Kanterakis, Alexandros, van Enckevort, David, Mai, Hailiang, Kattenberg, Mathijs, van Leeuwen, Elisabeth M., Neerincx, Pieter B. T., Oostra, Ben, Rivadeneira, Fernanodo, Suchiman, Eka H. D., Uitterlinden, Andre G., Willemsen, Gonneke, Wolffenbuttel, Bruce H., Wang, Jun, de Bakker, Paul I. W., van Ommen, Gert-Jan and van Duijn, Cornelia M. (2014) The genome of the Netherlands: design, and project goals. European Journal of Human Genetics, 22 2: 221-227. doi:10.1038/ejhg.2013.118

Author Boomsma, Dorret I.
Wijmenga, Cisca
Slagboom, Eline P.
Swertz, Morris A.
Karssen, Lennart C.
Abdellaoui, Abdel
Ye, Kai
Guryev, Victor
Vermaat, Martijn
van Dijk, Freerk
Francioli, Laurent C.
Hottenga, Jouke Jan
Laros, Jeroen F. J.
Li, Qibin
Li, Yingrui
Cao, Hongzhi
Chen, Ruoyan
Du, Yuanping
Li, Ning
Cao, Sujie
van Setten, Jessica
Menelaou, Androniki
Pulit, Sara L.
Hehir-Kwa, Jayne Y.
Beekman, Marian
Elbers, Clara C.
Byelas, Heorhiy
de Craen, Anton J. M.
Deelen, Patrick
Dijkstra, Martijn
den Dunnen, Johan T.
de Knijff, Peter
Houwing-Duistermaat, Jeanine
Koval, Vyacheslav
Estrada, Karol
Hofman, Albert
Kanterakis, Alexandros
van Enckevort, David
Mai, Hailiang
Kattenberg, Mathijs
van Leeuwen, Elisabeth M.
Neerincx, Pieter B. T.
Oostra, Ben
Rivadeneira, Fernanodo
Suchiman, Eka H. D.
Uitterlinden, Andre G.
Willemsen, Gonneke
Wolffenbuttel, Bruce H.
Wang, Jun
de Bakker, Paul I. W.
van Ommen, Gert-Jan
van Duijn, Cornelia M.
Title The genome of the Netherlands: design, and project goals
Journal name European Journal of Human Genetics   Check publisher's open access policy
ISSN 1018-4813
Publication date 2014-01-01
Year available 2013
Sub-type Article (original research)
DOI 10.1038/ejhg.2013.118
Open Access Status DOI
Volume 22
Issue 2
Start page 221
End page 227
Total pages 7
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Formatted 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.
Keyword Population genetics
Whole-genome sequence
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Chemistry and Molecular Biosciences
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