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van Rooij, Jeroen G J; Jhamai, Mila; Arp, Pascal P; Nouwens, Stephan C A; Verkerk, Marijn; Hofman, Albert; Ikram, M Arfan; Verkerk, Annemieke J; van Meurs, Joyce B J; Rivadeneira, Fernando; Uitterlinden, André G; Kraaij, Robert
European journal of human genetics, 10/2017, Letnik: 25, Številka: 10Journal Article
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.
