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 Cao; Jessica 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

doi:10.1038/ejhg.2013.118

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	English
Pages (from-to)	221-227
Number of pages	7
Journal	European Journal of Human Genetics
Volume	22
Issue number	2
DOIs	https://doi.org/10.1038/ejhg.2013.118
Publication status	Published - Feb-2014

Keywords

whole-genome sequence
trio-design
population genetics
SUSCEPTIBILITY VARIANTS
WIDE ASSOCIATION
COMMON SNPS
HERITABILITY
DISEASE
TWIN
MUTATIONS
FAMILY
RISK

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Boomsma, D. I., Wijmenga, C., Slagboom, E. P., Swertz, M. A., Karssen, L. C., Abdellaoui, A., Ye, K., Guryev, V., Vermaat, M., van Dijk, F., Francioli, L. C., Hottenga, J. J., Laros, J. F. J., Li, Q., Li, Y., Cao, H., Chen, R., Du, Y., Li, N., ... 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

@article{831fe5636d714e04874d45e8ff4bc078,

title = "The Genome of the Netherlands: design, and project goals",

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.",

keywords = "whole-genome sequence, trio-design, population genetics, SUSCEPTIBILITY VARIANTS, WIDE ASSOCIATION, COMMON SNPS, HERITABILITY, DISEASE, TWIN, MUTATIONS, FAMILY, RISK",

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

year = "2014",

month = feb,

doi = "10.1038/ejhg.2013.118",

language = "English",

volume = "22",

pages = "221--227",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "2",

}

Boomsma, DI, Wijmenga, C, Slagboom, EP, Swertz, MA, Karssen, LC, Abdellaoui, A, Ye, K, Guryev, V, Vermaat, M, van Dijk, F, Francioli, LC, Hottenga, JJ, Laros, JFJ, Li, Q, Li, Y, Cao, H, Chen, R, Du, Y, Li, N, Cao, S, van Setten, J, Menelaou, A, Pulit, SL, Hehir-Kwa, JY, Beekman, M, Elbers, CC, Byelas, H, de Craen, AJM, Deelen, P, Dijkstra, M, den Dunnen, JT, de Knijff, P, Houwing-Duistermaat, J, Koval, V, Estrada, K, Hofman, A, Kanterakis, A, van Enckevort, D, Mai, H, Kattenberg, M, van Leeuwen, EM, Neerincx, PBT, Oostra, B, Rivadeneira, F, Suchiman, EHD, Uitterlinden, AG, Willemsen, G, Wolffenbuttel, BH, Wang, J, de Bakker, PIW, van Ommen, G-J & van Duijn, CM 2014, 'The Genome of the Netherlands: design, and project goals', European Journal of Human Genetics, vol. 22, no. 2, pp. 221-227. https://doi.org/10.1038/ejhg.2013.118

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T1 - The Genome of the Netherlands

T2 - design, and project goals

AU - Boomsma, Dorret I.

AU - Wijmenga, Cisca

AU - Slagboom, Eline P.

AU - Swertz, Morris A.

AU - Karssen, Lennart C.

AU - Abdellaoui, Abdel

AU - Ye, Kai

AU - Guryev, Victor

AU - Vermaat, Martijn

AU - van Dijk, Freerk

AU - Francioli, Laurent C.

AU - Hottenga, Jouke Jan

AU - Laros, Jeroen F. J.

AU - Li, Qibin

AU - Li, Yingrui

AU - Cao, Hongzhi

AU - Chen, Ruoyan

AU - Du, Yuanping

AU - Li, Ning

AU - Cao, Sujie

AU - van Setten, Jessica

AU - Menelaou, Androniki

AU - Pulit, Sara L.

AU - Hehir-Kwa, Jayne Y.

AU - Beekman, Marian

AU - Elbers, Clara C.

AU - Byelas, Heorhiy

AU - de Craen, Anton J. M.

AU - Deelen, Patrick

AU - Dijkstra, Martijn

AU - den Dunnen, Johan T.

AU - de Knijff, Peter

AU - Houwing-Duistermaat, Jeanine

AU - Koval, Vyacheslav

AU - Estrada, Karol

AU - Hofman, Albert

AU - Kanterakis, Alexandros

AU - van Enckevort, David

AU - Mai, Hailiang

AU - Kattenberg, Mathijs

AU - van Leeuwen, Elisabeth M.

AU - Neerincx, Pieter B. T.

AU - Oostra, Ben

AU - Rivadeneira, Fernanodo

AU - Suchiman, Eka H. D.

AU - Uitterlinden, Andre G.

AU - Willemsen, Gonneke

AU - Wolffenbuttel, Bruce H.

AU - Wang, Jun

AU - de Bakker, Paul I. W.

AU - van Ommen, Gert-Jan

AU - van Duijn, Cornelia M.

PY - 2014/2

Y1 - 2014/2

N2 - 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.

AB - 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.

KW - whole-genome sequence

KW - trio-design

KW - population genetics

KW - SUSCEPTIBILITY VARIANTS

KW - WIDE ASSOCIATION

KW - COMMON SNPS

KW - HERITABILITY

KW - DISEASE

KW - TWIN

KW - MUTATIONS

KW - FAMILY

KW - RISK

U2 - 10.1038/ejhg.2013.118

DO - 10.1038/ejhg.2013.118

M3 - Article

C2 - 23714750

SN - 1018-4813

VL - 22

SP - 221

EP - 227

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 2

ER -

The Genome of the Netherlands: design, and project goals

Abstract

Keywords

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