We have generated a next-generation whole-exome sequencing data set of 2628 participants of the population-based Rotterdam Study cohort, comprising 669 737 single-nucleotide variants and 24 019 short insertions and deletions. Because of broad and deep longitudinal phenotyping of the Rotterdam Study, this data set permits extensive interpretation of genetic variants on a range of clinically relevant outcomes, and is accessible as a control data set. We show that next-generation sequencing data sets yield a large degree of population-specific variants, which are not captured by other available large sequencing efforts, being ExAC, ESP, 1000G, UK10K, GoNL and DECODE.

dx.doi.org/10.1038/ejhg.2017.110, hdl.handle.net/1765/103544
European Journal of Human Genetics
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Erasmus MC: University Medical Center Rotterdam

van Rooij, J.G.J, Jhamai, M, Arp, P.P, Nouwens, S, Verkerk, M, Hofman, A, … Kraaij, R. (2017). Population-specific genetic variation in large sequencing data sets. European Journal of Human Genetics, 25(10), 1173–1175. doi:10.1038/ejhg.2017.110