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.
authors.affiliation: Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
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authors.initials: DI
authors.lastname: Boomsma
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Cisca
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authors.lastname: Wijmenga
authors.affiliation: Molecular Epidemiology Section, Leiden University Medical Center, Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands.
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authors.lastname: Slagboom
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Morris A
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authors.lastname: Swertz
authors.affiliation: Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
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authors.affiliation: Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
authors.forename: Abdel
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authors.lastname: Abdellaoui
authors.affiliation: Molecular Epidemiology Section, Leiden University Medical Center, Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands.
authors.forename: Kai
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authors.affiliation: 1] European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands [2] Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Victor
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authors.lastname: Guryev
authors.affiliation: 1] Netherlands Bioinformatics Centre, Nijmegen, The Netherlands [2] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [3] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Martijn
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authors.lastname: Vermaat
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Freerk
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authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
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authors.initials: LC
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authors.affiliation: Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
authors.forename: Jouke Jan
authors.initials: JJ
authors.lastname: Hottenga
authors.affiliation: 1] Netherlands Bioinformatics Centre, Nijmegen, The Netherlands [2] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [3] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
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authors.initials: JF
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authors.affiliation: BGI-Shenzhen, Shenzhen, China.
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authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Yingrui
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authors.affiliation: BGI-Shenzhen, Shenzhen, China.
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authors.affiliation: BGI-Shenzhen, Shenzhen, China.
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authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Yuanping
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authors.affiliation: BGI-Europe, Copenhagen, Denmark.
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authors.affiliation: BGI-Europe, Copenhagen, Denmark.
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authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Jessica
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authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Androniki
authors.initials: A
authors.lastname: Menelaou
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Sara L
authors.initials: SL
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authors.affiliation: Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
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authors.initials: JY
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authors.affiliation: Department of Gerontology and Geriatrics, Leiden University Medical Centre, Leiden, The Netherlands.
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authors.lastname: Beekman
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
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authors.initials: CC
authors.lastname: Elbers
authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
authors.forename: Heorhiy
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authors.affiliation: Department of Gerontology and Geriatrics, Leiden University Medical Centre, Leiden, The Netherlands.
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authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
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authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
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authors.affiliation: 1] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [2] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
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authors.initials: JT
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authors.affiliation: 1] Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands [2] Leiden Genome Technology Center, Leiden University Medical Center, Leiden, The Netherlands.
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authors.affiliation: Erasmus Medical Centre, Genetic Laboratory Internal Medicine, Rotterdam, The Netherlands.
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authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
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authors.affiliation: Department of Biological Psychology, VU University Amsterdam, Netherlands Twin Register, Amsterdam, The Netherlands.
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authors.affiliation: University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
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authors.affiliation: Department of Clinical Genetics, Erasmus University Medical School, Rotterdam, The Netherlands.
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authors.initials: BH
authors.lastname: Wolffenbuttel
authors.affiliation: 1] BGI-Shenzhen, Shenzhen, China [2] Department of Biology, University of Copenhagen, Copenhagen, Denmark [3] The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Jun
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authors.forename: Paul I W
authors.initials: PI
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authors.affiliation: Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Gert-Jan
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mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D030541:Databases, Genetic; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D058974:Phylogeography; D017422:Sequence Analysis, DNA; D055815:Young Adult