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Whole-genome sequence variation, population structure and demographic history of the Dutch population

Journal article published in 2014 by Elisabeth M. van Leeuwen, Mannis van Oven ORCID, Jessica van Setten, Barbera D. C. van Schaik, K. Joeri van der Velde, Leonard H. van den Berg, Gert-Jan B. van Ommen, Freerk van Dijk, Laurent C. Francioli, Johan T. den Dunnen, David van Enckevort, Anton J. M. de Craen, Peter de Knijff, Cornelia M. van Duijn, Paul I. W. de Bakker ORCID and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Whole-genome sequencing enables complete characterization of genetic variation, but geographic clustering of rare alleles demands many diverse populations be studied. Here we describe the Genome of the Netherlands (GoNL) Project, in which we sequenced the whole genomes of 250 Dutch parent-offspring families and constructed a haplotype map of 20.4 million single-nucleotide variants and 1.2 million insertions and deletions. The intermediate coverage ( approximately 13x) and trio design enabled extensive characterization of structural variation, including midsize events (30-500 bp) previously poorly catalogued and de novo mutations. We demonstrate that the quality of the haplotypes boosts imputation accuracy in independent samples, especially for lower frequency alleles. Population genetic analyses demonstrate fine-scale structure across the country and support multiple ancient migrations, consistent with historical changes in sea level and flooding. The GoNL Project illustrates how single-population whole-genome sequencing can provide detailed characterization of genetic variation and may guide the design of future population studies.